Q8IUC6
PR
Gene name |
TICAM1 (PRVTIRB, TRIF) |
Protein name |
TIR domain-containing adapter molecule 1 |
Names |
TICAM-1, Proline-rich, vinculin and TIR domain-containing protein B, Putative NF-kappa-B-activating protein 502H, Toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta, MyD88-3, TIR domain-containing adapter protein inducing IFN-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:148022 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
667 variants for Q8IUC6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9105442 RCV000707570 rs777499533 |
3 | C>G | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002554382 RCV001055148 rs142880589 CA9105437 |
13 | D>N | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001204826 rs2093591434 |
22 | K>R | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000650573 CA9105424 rs79591246 |
32 | T>I | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758634091 RCV001351499 CA9105421 |
34 | R>H | Variant assessed as Somatic; 0.0 impact. Herpes simplex encephalitis, susceptibility to, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9105419 RCV001339969 rs765301499 |
41 | D>G | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9105418 rs375571285 RCV001247820 |
45 | A>V | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA403493330 rs1437926927 RCV000698021 |
66 | A>V | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_084055 rs372818181 CA9105402 RCV000808431 |
71 | R>Q | Herpes simplex encephalitis, susceptibility to, 4 no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs11466719 CA9105399 VAR_051416 RCV000650566 |
75 | R>C | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA403493263 rs11466719 RCV001309886 |
75 | R>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs935231020 RCV001047750 CA403493216 |
79 | G>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001702542 CA9105395 VAR_084056 RCV000650558 rs199816697 |
80 | V>M | Herpes simplex encephalitis, susceptibility to, 4 no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228817 rs2093590817 |
87 | E>V | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558222 rs141687483 CA9105390 RCV002530217 |
90 | P>Q | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2093590771 RCV001240964 |
91 | D>E | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9105389 rs369953609 RCV001302149 |
98 | R>C | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_084057 RCV000693219 RCV002532230 CA9105384 rs201291933 |
111 | A>T | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199683447 RCV000707447 CA9105377 |
116 | V>M | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143789239 RCV000705831 CA9105372 |
122 | V>I | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308604 rs373241772 CA9105371 |
123 | R>C | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693305 rs755557071 CA9105360 |
132 | R>Q | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1394205 rs387907307 RCV000030823 CA130135 |
141 | R>* | Variant assessed as Somatic; 0.0 impact. Herpes simplex encephalitis, susceptibility to, 4 large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9105353 RCV000704121 rs753365777 |
145 | G>V | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA403492647 rs1202936308 RCV000685374 |
148 | I>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA403492639 rs1599143486 RCV000792698 |
149 | A>G | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221974 rs2093590230 |
149 | A>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208242 CA403492624 rs1224448097 |
151 | D>N | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001318605 CA9105349 rs767397394 |
156 | R>W | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_084059 CA9105346 rs770166865 RCV000700411 |
157 | T>M | Herpes simplex encephalitis, susceptibility to, 4 no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000547869 CA9105344 rs145148929 |
160 | S>F | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9105341 RCV001046218 rs780257437 |
162 | L>V | Variant assessed as Somatic; 0.0 impact. Herpes simplex encephalitis, susceptibility to, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs753273529 RCV001037831 CA9105336 |
172 | P>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000650560 CA9105333 rs141394423 COSM567218 |
180 | R>C | lung Herpes simplex encephalitis, susceptibility to, 4 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs940970222 CA304548420 RCV001039077 |
180 | R>H | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs146550489 RCV000030824 CA130138 VAR_069082 |
186 | S>L | Herpes simplex encephalitis, susceptibility to, 4 IIAE6; no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002552641 CA9105325 RCV001354618 rs747441149 RCV001048367 |
189 | S>T | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754876060 CA9105314 RCV000650563 |
205 | S>N | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213185 CA9105307 rs775445910 |
222 | R>H | Variant assessed as Somatic; 0.0 impact. Herpes simplex encephalitis, susceptibility to, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001318542 rs760097887 CA9105305 |
227 | P>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000693075 rs141739488 CA9105302 |
233 | D>H | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9105301 RCV000802529 rs141739488 |
233 | D>N | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9105300 RCV000898844 rs200697470 |
234 | P>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201853120 CA9105295 RCV000802607 |
240 | P>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002534384 CA9105292 rs370487475 RCV000700624 |
241 | E>K | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001045012 rs2093589331 |
244 | P>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs151272128 RCV001703204 RCV000550916 CA9105288 |
245 | G>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555730283 RCV000585896 CA403491727 |
250 | P>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs370748549 RCV001068489 CA9105278 |
258 | S>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9105272 rs767551524 RCV001056200 |
271 | P>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1032622935 CA304548101 RCV002537303 RCV000809118 |
276 | P>S | Variant assessed as Somatic; 0.0 impact. Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9105245 RCV000703758 RCV002534417 rs763590950 |
312 | Q>R | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9105231 rs757786083 RCV001315746 |
332 | T>M | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9105223 rs773920190 RCV001041974 |
342 | T>P | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001035453 rs2093588326 |
343 | S>F | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403491085 rs1176341029 RCV001209590 |
348 | P>L | Variant assessed as Somatic; 0.0 impact. Herpes simplex encephalitis, susceptibility to, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs769618186 RCV001068789 CA9105219 |
350 | P>Q | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000793916 CA9105216 rs772349684 |
352 | T>P | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000979433 rs11466722 |
365 | P>missing | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs11466722 RCV000686317 |
366 | P>missing | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs11466722 RCV000884994 |
366 | P>missing | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000961580 rs11466722 |
367 | P>missing | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456078 RCV001516628 rs11466722 |
367 | P>missing | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001307871 CA304547751 rs1028603882 |
368 | S>P | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9105195 rs147816959 RCV000822399 |
377 | T>N | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001316774 rs2093587726 |
385 | S>P | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA304547677 rs867839844 RCV001220013 |
390 | S>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000813760 RCV003166327 COSM998772 CA9105181 rs751265594 |
406 | E>K | Herpes simplex encephalitis, susceptibility to, 4 endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749950910 RCV001203037 CA9105178 |
408 | I>V | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003224460 RCV000768337 CA9105173 rs372838204 |
413 | R>Q | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000650564 rs140568066 CA9105165 |
422 | P>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001340941 rs749928559 CA403490357 |
424 | G>R | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001347067 rs770034965 CA304547528 |
452 | I>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000650561 COSM1229272 rs1555730200 CA403489827 |
463 | R>H | Herpes simplex encephalitis, susceptibility to, 4 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs780460725 RCV001294575 CA9105145 |
470 | N>K | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
rs763237315 RCV001055509 |
481 | G>R | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199751361 CA9105129 RCV001226353 |
485 | C>Y | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9105110 rs772590478 RCV000650559 |
519 | I>N | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000966471 RCV001726395 CA9105107 rs150740529 |
521 | A>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2093586437 RCV001202156 |
522 | R>G | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056306 rs373671679 CA9105096 |
543 | E>V | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000817413 rs1284363590 CA403489163 |
544 | Q>H | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9105086 RCV003162981 RCV000650562 VAR_084065 rs143066432 |
557 | D>N | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139939816 RCV000932961 CA9105083 |
560 | R>W | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2093585998 RCV001350075 |
566 | L>M | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001529334 rs143679494 RCV000543404 CA9105081 |
568 | A>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9105080 RCV000706813 rs148925210 |
574 | L>V | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs752768415 RCV001297301 |
584 | M>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199784356 RCV000650568 CA9105075 |
588 | Q>P | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003117596 rs74359855 RCV000807139 RCV003166262 CA9105074 |
592 | G>R | Susceptibility to severe COVID-19 Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9105072 VAR_084066 RCV001309641 rs561021962 |
595 | M>L | Herpes simplex encephalitis, susceptibility to, 4 no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150224968 RCV000915616 CA9105069 VAR_084067 |
598 | G>W | Herpes simplex encephalitis, susceptibility to, 4 no effect on IFNB induction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2093585623 RCV001203328 |
605 | A>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759573569 CA9105046 RCV002553381 RCV001059478 |
628 | P>L | Herpes simplex encephalitis, susceptibility to, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000802786 CA9105047 rs3177471 |
628 | P>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749105540 CA9105044 RCV001044506 |
630 | P>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001206639 CA9105041 rs747059000 |
634 | H>Q | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001214734 rs945545750 |
640 | T>I | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762126373 RCV001071107 |
643 | P>missing | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344707 CA9105025 rs762670581 |
656 | P>R | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001321805 rs148396522 CA9105023 |
658 | P>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001043228 CA403488447 rs1292695561 |
658 | P>S | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001306744 rs536690750 CA9105009 |
674 | P>L | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000704138 CA9104991 rs200326236 |
703 | A>T | Herpes simplex encephalitis, susceptibility to, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA403493745 rs1242807777 |
2 | A>G | No |
ClinGen TOPMed |
|
|
rs1294992486 CA403493747 |
2 | A>S | No |
ClinGen gnomAD |
|
|
VAR_084053 CA9105441 rs114566317 |
4 | T>I | inhibition of IFNB induction [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1291078777 CA403493736 |
4 | T>P | No |
ClinGen gnomAD |
|
|
rs1164350572 CA403493726 |
5 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762981932 CA9105438 |
11 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403493678 rs1425438537 |
13 | D>G | No |
ClinGen gnomAD |
|
|
CA9105436 rs142880589 |
13 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9105435 rs762230516 |
14 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105434 rs371293615 |
15 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1425299327 CA403493659 |
16 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760351659 CA9105432 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1227222730 CA403493627 |
21 | D>E | No |
ClinGen gnomAD |
|
|
CA9105429 rs745319253 |
21 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1385573307 CA403493610 |
24 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403493593 rs1304302691 |
26 | L>R | No |
ClinGen gnomAD |
|
|
rs1406783378 CA403493588 |
27 | K>R | No |
ClinGen gnomAD |
|
|
CA403493554 rs1168190614 |
32 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9105423 rs747970296 |
33 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9105422 rs780201394 |
34 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403493536 rs1200082984 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs1382688616 CA403493539 |
35 | P>S | No |
ClinGen TOPMed |
|
|
rs1223292796 CA403493507 |
40 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1480783596 CA403493483 |
43 | L>P | No |
ClinGen gnomAD |
|
|
rs1253414113 CA403493476 |
44 | H>L | No |
ClinGen gnomAD |
|
|
rs1253414113 CA403493477 |
44 | H>R | No |
ClinGen gnomAD |
|
| VAR_038789 | 46 | M>I | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1284410549 CA403493459 |
47 | V>I | No |
ClinGen gnomAD |
|
|
CA9105415 rs761078466 |
51 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA403493425 rs1392144677 |
52 | G>D | No |
ClinGen gnomAD |
|
|
CA403493420 rs1301345260 |
53 | Q>R | No |
ClinGen gnomAD |
|
|
rs201782115 VAR_084054 CA9105413 |
60 | S>C | inhibition of IFNB induction [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1464309068 CA403493373 |
60 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403493332 rs1437926927 |
66 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA403493335 rs1180521404 |
66 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1198375169 CA403493328 |
67 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1198375169 CA403493327 |
67 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769794539 CA9105408 |
68 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304548829 rs147427321 |
68 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769794539 CA9105407 |
68 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226772448 CA403493304 |
70 | A>G | No |
ClinGen TOPMed |
|
|
rs746146801 CA9105403 |
71 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403493277 rs1599143710 |
73 | V>A | No |
ClinGen Ensembl |
|
|
rs1599143705 CA403493273 |
74 | A>P | No |
ClinGen Ensembl |
|
|
rs1395735409 CA403493269 |
74 | A>V | No |
ClinGen gnomAD |
|
|
CA403493259 rs1337206286 |
75 | R>H | No |
ClinGen gnomAD |
|
|
CA403493245 rs1157942336 |
76 | Q>H | No |
ClinGen gnomAD |
|
|
CA403493247 rs756698093 |
76 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756698093 CA9105397 |
76 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753040804 CA9105396 |
77 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs935231020 CA304548784 |
79 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9105394 rs759244065 |
80 | V>G | No |
ClinGen ExAC |
|
|
CA403493192 rs1599143675 |
81 | D>G | No |
ClinGen Ensembl |
|
|
CA403493180 rs1244091677 |
82 | S>N | No |
ClinGen gnomAD |
|
|
CA403493178 rs1244091677 |
82 | S>T | No |
ClinGen gnomAD |
|
|
rs1463838095 CA403493164 |
83 | T>I | No |
ClinGen gnomAD |
|
|
rs150500469 CA9105392 |
84 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403493146 rs1352933258 |
85 | D>H | No |
ClinGen gnomAD |
|
|
CA304548764 rs550899449 |
86 | P>Q | No |
ClinGen Ensembl |
|
|
rs762322733 CA9105391 |
87 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403493099 rs1383854983 |
88 | E>D | No |
ClinGen gnomAD |
|
|
CA403493094 rs1317469292 |
89 | P>T | No |
ClinGen gnomAD |
|
|
rs1317551968 CA403493061 |
92 | V>A | No |
ClinGen gnomAD |
|
|
rs1470467112 CA403493066 |
92 | V>M | No |
ClinGen TOPMed |
|
|
CA304548752 rs985177967 |
93 | S>P | No |
ClinGen Ensembl |
|
|
CA403493003 rs369953609 |
98 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9105388 rs761804578 |
98 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1160989710 CA403492987 |
99 | L>F | No |
ClinGen gnomAD |
|
|
CA304548736 rs952501643 |
100 | Y>* | No |
ClinGen Ensembl |
|
|
rs992744195 CA304548734 |
102 | L>R | No |
ClinGen TOPMed |
|
|
CA304548728 rs777976835 |
104 | A>T | No |
ClinGen Ensembl |
|
|
rs1385414651 CA403492937 |
104 | A>V | No |
ClinGen gnomAD |
|
|
CA9105383 rs771204742 |
111 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA304548708 rs771204742 |
111 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs749264598 CA9105382 |
112 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777909657 CA9105381 |
113 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403492870 rs1005476424 |
114 | R>G | No |
ClinGen TOPMed |
|
|
CA9105380 rs139070404 |
114 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304548702 rs1005476424 |
114 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200773818 CA403492866 |
115 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105379 rs200773818 |
115 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751977492 CA9105376 |
119 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs765891838 CA9105375 |
119 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105374 rs762671258 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs901328850 CA304548677 |
121 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9105370 rs768611254 |
123 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105369 rs768611254 |
123 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760336209 CA9105368 |
124 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA403492808 rs1199346881 |
125 | L>F | No |
ClinGen gnomAD |
|
|
rs775366110 CA9105367 |
125 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA304548642 rs1009819273 |
126 | S>R | No |
ClinGen TOPMed |
|
|
rs1271210390 CA403492792 |
128 | R>G | No |
ClinGen gnomAD |
|
|
CA9105366 rs770987789 |
128 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA403492786 rs1274012750 |
129 | D>N | No |
ClinGen gnomAD |
|
|
CA9105363 rs564906226 |
131 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781746645 CA9105361 |
132 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403492752 rs1407583940 |
134 | G>E | No |
ClinGen gnomAD |
|
|
CA304548610 rs999886809 |
135 | E>D | No |
ClinGen Ensembl |
|
|
CA403492747 rs1599143523 |
135 | E>G | No |
ClinGen Ensembl |
|
|
CA304548616 rs891500607 |
135 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9105358 rs751804319 |
137 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1176319634 CA403492713 |
140 | A>T | No |
ClinGen gnomAD |
|
|
CA9105357 rs387907307 |
141 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105356 rs750138490 |
141 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_084058 | 141 | R>del | inhibition of IFNB induction [UniProt] | No | UniProt |
|
CA403492688 rs761271093 |
143 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761271093 CA9105354 |
143 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764694460 CA9105355 |
143 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753365777 CA403492673 |
145 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA403492655 rs1261090209 |
147 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1303872299 CA403492629 |
150 | G>E | No |
ClinGen gnomAD |
|
|
rs1371998685 CA403492605 |
153 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775140912 CA403492607 CA9105350 |
153 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376914657 CA9105348 |
156 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403492553 rs1408873493 |
159 | Q>H | No |
ClinGen gnomAD |
|
|
CA9105343 rs769041568 |
161 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA9105342 rs747610140 |
161 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780257437 CA403492537 |
162 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1461624013 CA403492493 |
168 | S>C | No |
ClinGen gnomAD |
|
|
rs1461624013 CA403492492 |
168 | S>F | No |
ClinGen gnomAD |
|
|
CA9105339 rs373468408 |
169 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403492484 rs1284404080 |
170 | A>T | No |
ClinGen gnomAD |
|
|
CA403492481 rs1322959750 |
170 | A>V | No |
ClinGen TOPMed |
|
|
CA9105337 rs756911879 |
171 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA403492471 rs1250357322 |
172 | P>R | No |
ClinGen TOPMed |
|
|
CA403492473 rs753273529 |
172 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403492465 rs1480788600 |
173 | S>C | No |
ClinGen TOPMed |
|
|
rs763658275 CA9105335 |
175 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403492429 rs1345844073 |
179 | P>S | No |
ClinGen gnomAD |
|
|
CA403492412 rs1164466818 |
182 | I>T | No |
ClinGen gnomAD |
|
|
rs375230364 CA9105332 |
182 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9105329 rs765489270 |
184 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105328 rs765489270 |
184 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105327 rs762194513 |
185 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356657375 CA403492351 |
191 | G>V | No |
ClinGen gnomAD |
|
|
CA304548381 rs866478664 |
191 | G>W | No |
ClinGen Ensembl |
|
|
CA403492348 rs1600054043 |
192 | C>G | No |
ClinGen Ensembl |
|
|
rs772478656 CA9105323 |
193 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746169578 CA403492332 |
195 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9105322 rs746169578 |
195 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779250040 CA9105321 |
195 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756897138 CA9105320 |
197 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA403492318 rs1403120145 |
198 | G>S | No |
ClinGen gnomAD |
|
|
CA403492307 rs1303978682 |
199 | S>I | No |
ClinGen gnomAD |
|
|
CA403492309 rs1303978682 |
199 | S>N | No |
ClinGen gnomAD |
|
|
CA9105318 rs562147335 |
199 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403492303 rs1369946046 |
200 | P>S | No |
ClinGen gnomAD |
|
|
rs1265495063 CA403492299 |
201 | A>T | No |
ClinGen gnomAD |
|
|
CA403492284 rs1600054001 |
203 | L>P | No |
ClinGen Ensembl |
|
|
CA403492282 rs1427727215 |
204 | A>T | No |
ClinGen gnomAD |
|
|
rs766336167 CA9105312 |
209 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs766336167 CA403492234 |
209 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1222745582 CA403492191 |
212 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403492192 rs1222745582 |
212 | S>Y | No |
ClinGen gnomAD |
|
|
CA403492152 rs1227093064 |
215 | M>I | No |
ClinGen gnomAD |
|
|
rs764252931 CA9105309 |
219 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA403492108 rs1484557050 |
219 | S>R | No |
ClinGen TOPMed |
|
|
rs1344952261 CA403492069 |
222 | R>C | No |
ClinGen gnomAD |
|
|
rs772559700 CA9105306 |
223 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs895523368 CA304548301 |
224 | P>S | No |
ClinGen TOPMed |
|
|
CA403492028 rs1261195841 |
225 | H>P | No |
ClinGen TOPMed |
|
|
rs1281678153 CA403492034 |
225 | H>Y | No |
ClinGen gnomAD |
|
|
CA403492017 rs1297831092 |
226 | G>E | No |
ClinGen gnomAD |
|
|
CA403492022 rs1394540891 |
226 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403492009 rs1461234309 |
227 | P>S | No |
ClinGen gnomAD |
|
|
CA9105304 rs774682259 |
228 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA403491988 rs1173048927 |
229 | K>Q | No |
ClinGen TOPMed |
|
|
rs1427468517 CA403491971 |
230 | L>I | No |
ClinGen TOPMed |
|
|
rs903323285 CA304548274 |
233 | D>A | No |
ClinGen Ensembl |
|
|
CA403491901 rs1194878909 |
236 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403491897 rs1194878909 |
236 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780633461 CA9105298 |
237 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA304548253 rs569449121 |
238 | L>F | No |
ClinGen 1000Genomes |
|
|
CA9105297 rs150390826 |
238 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403491827 rs1568365385 |
241 | E>D | No |
ClinGen Ensembl |
|
|
CA403491838 rs370487475 |
241 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403491821 rs1279859842 |
242 | P>S | No |
ClinGen TOPMed |
|
|
rs760807669 CA9105291 |
243 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA403491793 rs151272128 |
245 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 245 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9105289 rs151272128 |
245 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403491741 rs1195951951 |
249 | E>G | No |
ClinGen TOPMed |
|
|
rs771453047 CA9105286 |
249 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105287 rs771453047 |
249 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763249230 CA9105285 |
250 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs372593861 CA9105283 |
254 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372593861 CA9105282 |
254 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1666362 CA9105281 rs370345154 |
256 | P>L | eye [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs939720063 CA304548180 |
257 | P>L | No |
ClinGen gnomAD |
|
|
rs370748549 CA304548176 |
258 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9105276 rs750164988 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403491618 rs1206192015 |
261 | I>F | No |
ClinGen gnomAD |
|
|
CA403491615 rs1361092940 |
261 | I>T | No |
ClinGen TOPMed |
|
|
CA9105275 rs778636825 |
262 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403491609 COSM1394202 rs1260265211 |
262 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1461196504 CA403491591 |
265 | P>Q | No |
ClinGen gnomAD |
|
|
rs1300806411 CA403491585 |
266 | E>A | No |
ClinGen TOPMed |
|
|
CA304548155 rs111760366 |
266 | E>K | No |
ClinGen Ensembl |
|
|
CA9105274 rs756342788 |
268 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313222893 CA403491568 |
269 | S>N | No |
ClinGen gnomAD |
|
|
CA403491560 rs1261663079 |
270 | S>N | No |
ClinGen gnomAD |
|
|
CA9105273 rs752908663 |
271 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755005131 CA9105271 |
272 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403491544 rs1397775692 |
273 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs11466721 CA304548107 VAR_051417 |
275 | L>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs766809661 CA9105269 |
276 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403491525 rs1444390257 |
277 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1244190978 CA403491505 |
280 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403491498 rs1218883426 |
281 | D>H | No |
ClinGen TOPMed |
|
|
CA9105267 rs773613526 |
282 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600053776 CA403491485 |
283 | T>P | No |
ClinGen Ensembl |
|
|
CA9105265 rs546707391 |
287 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1355968207 CA403491453 |
288 | P>L | No |
ClinGen gnomAD |
|
|
CA403491455 rs1205741026 |
288 | P>S | No |
ClinGen gnomAD |
|
|
CA403491446 rs1248703865 |
289 | D>E | No |
ClinGen TOPMed |
|
|
rs776106254 CA9105264 |
289 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403491447 rs1358449489 |
289 | D>V | No |
ClinGen gnomAD |
|
|
rs768443709 CA9105263 |
290 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1600053763 CA403491444 |
290 | T>P | No |
ClinGen Ensembl |
|
|
rs200901007 CA9105260 |
292 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1394201 rs200901007 CA9105259 |
292 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1382231970 CA403491428 |
293 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9105258 rs778743730 |
297 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs778743730 CA403491400 |
297 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304548055 rs1012958701 |
298 | T>S | No |
ClinGen TOPMed |
|
|
CA403491393 rs1237024981 |
298 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9105257 rs757039942 |
299 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304548048 rs550919185 |
300 | Y>* | No |
ClinGen 1000Genomes |
|
|
rs1423658533 CA403491380 |
300 | Y>C | No |
ClinGen gnomAD |
|
|
rs749133560 CA403491373 |
301 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749133560 CA9105256 |
301 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403491377 rs1386215939 |
301 | P>T | No |
ClinGen gnomAD |
|
| VAR_084060 | 302 | V>L | no effect on IFNB induction [UniProt] | No | UniProt |
|
CA9105255 rs530685103 |
304 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 305 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766504909 CA9105253 |
306 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766504909 CA9105252 |
306 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758917743 CA9105251 |
307 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105250 rs750934698 |
308 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9105248 rs762032500 |
309 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs958394435 CA304547992 |
310 | G>A | No |
ClinGen Ensembl |
|
|
rs1337207471 CA403491311 |
312 | Q>* | No |
ClinGen gnomAD |
|
|
rs377055358 CA304547980 |
313 | S>A | No |
ClinGen ESP TOPMed |
|
|
rs771753171 CA9105243 |
313 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9105242 rs201474033 |
318 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403491276 rs1403830160 |
318 | I>V | No |
ClinGen gnomAD |
|
|
CA9105241 rs373898244 |
319 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403491266 rs1334463581 |
320 | E>Q | No |
ClinGen gnomAD |
|
|
CA9105240 rs369756552 |
321 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369756552 CA403491255 |
321 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9105238 rs777615352 |
322 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9105237 rs747280830 |
324 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403491238 rs1600053637 |
324 | N>T | No |
ClinGen Ensembl |
|
|
CA403491230 rs1198738783 |
325 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403491232 rs1198738783 |
325 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780079114 CA9105235 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA304547915 rs201243827 |
327 | S>P | No |
ClinGen 1000Genomes |
|
|
CA9105233 rs750536106 |
330 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs978559582 CA304547912 |
330 | D>E | No |
ClinGen Ensembl |
|
|
CA403491194 rs1384542664 |
331 | Q>* | No |
ClinGen TOPMed |
|
|
CA9105232 rs779228290 |
331 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409052982 CA403491182 |
333 | P>S | No |
ClinGen TOPMed |
|
|
CA9105227 rs752435609 |
337 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9105225 rs767227836 |
340 | D>G | No |
ClinGen ExAC |
|
|
rs1367704580 CA403491139 |
340 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1367704580 CA403491137 |
340 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA403491129 rs1401418673 |
341 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9105222 rs770773137 |
344 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157605355 CA403491111 |
344 | P>L | No |
ClinGen gnomAD |
|
|
CA304547878 rs1019593923 |
346 | T>A | No |
ClinGen gnomAD |
|
|
CA403491102 rs1019593923 |
346 | T>P | No |
ClinGen gnomAD |
|
|
CA9105221 rs763009126 |
348 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA403491089 rs763009126 |
348 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs867468409 CA304547859 |
349 | C>G | No |
ClinGen Ensembl |
|
|
rs780203292 CA9105217 |
351 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403491069 rs1568365240 |
351 | P>S | No |
ClinGen Ensembl |
|
|
rs1178964015 CA403491062 |
352 | T>I | No |
ClinGen gnomAD |
|
|
CA403491060 rs944010613 |
353 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9105215 rs745867761 |
353 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304547837 rs944010613 |
353 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403491046 rs1241783574 |
355 | T>I | No |
ClinGen gnomAD |
|
|
rs1600053552 CA403491050 |
355 | T>P | No |
ClinGen Ensembl |
|
|
CA403491043 rs1312255598 |
356 | P>L | No |
ClinGen gnomAD |
|
|
CA9105214 rs779115581 |
356 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757691551 CA9105212 |
358 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs868138061 CA304547805 |
359 | S>P | No |
ClinGen Ensembl |
|
|
CA403491019 rs1349456859 |
360 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9105210 rs778249228 |
361 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs756503936 CA9105209 |
362 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454029056 CA403490996 |
364 | P>L | No |
ClinGen gnomAD |
|
|
rs753132678 CA9105208 |
364 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767013628 CA9105207 |
365 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360931234 CA403490995 |
365 | P>T | No |
ClinGen gnomAD |
|
|
CA403490986 rs1408916796 |
366 | P>L | No |
ClinGen gnomAD |
|
|
rs759303487 CA9105206 |
366 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403490975 rs1160690760 |
368 | S>L | No |
ClinGen gnomAD |
|
|
CA9105198 rs751024228 |
370 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241108091 CA403490962 |
371 | P>A | No |
ClinGen gnomAD |
|
|
CA9105197 rs200885543 |
374 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762846466 CA9105196 |
376 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105194 rs147816959 VAR_084061 |
377 | T>I | no effect on IFNB induction [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs371955184 CA304547725 |
380 | S>A | No |
ClinGen ESP TOPMed |
|
|
CA9105193 rs761536693 |
381 | L>Q | No |
ClinGen ExAC gnomAD |
|
| VAR_084062 | 386 | L>P | no effect on IFNB induction [UniProt] | No | UniProt |
|
CA304547691 rs925438567 |
387 | E>V | No |
ClinGen TOPMed |
|
|
CA9105190 rs375800474 |
388 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9105191 rs375800474 |
388 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778832857 CA9105189 |
390 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_084063 | 392 | Q>K | inhibition of IFNB induction [UniProt] | No | UniProt |
|
rs1314836674 CA403490607 |
394 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 396 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403490547 rs1193770166 |
398 | V>E | No |
ClinGen TOPMed |
|
|
rs778372322 CA9105186 |
399 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA304547665 rs201821648 |
400 | L>F | No |
ClinGen Ensembl |
|
|
rs1568365190 CA403490528 |
400 | L>H | No |
ClinGen Ensembl |
|
|
rs781665133 CA9105183 |
402 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304547649 rs781665133 |
402 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304547650 rs781665133 |
402 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403490500 rs1466893137 |
402 | A>V | No |
ClinGen TOPMed |
|
|
CA403490479 rs1174760913 |
404 | A>G | No |
ClinGen TOPMed |
|
|
CA9105182 rs754569139 |
404 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162658317 CA403490451 |
407 | H>L | No |
ClinGen gnomAD |
|
|
CA403490442 rs1474785136 |
409 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776276419 CA9105175 |
411 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1222695665 CA403490424 |
412 | V>A | No |
ClinGen gnomAD |
|
|
rs763998229 CA9105174 |
412 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA403490419 rs372838204 |
413 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9105170 rs201008382 |
416 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9105171 rs201008382 |
416 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 417 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 418 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9105169 rs773495939 |
418 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770414344 CA9105168 |
418 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294358833 CA403490374 |
421 | V>L | No |
ClinGen gnomAD |
|
|
rs1294358833 CA403490375 |
421 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403490365 rs1287588056 |
422 | P>L | No |
ClinGen TOPMed |
|
|
rs758048210 CA9105162 |
423 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105161 rs749928559 |
424 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995707106 CA304547575 |
426 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403490333 rs1191480606 |
426 | T>I | No |
ClinGen gnomAD |
|
|
rs995707106 CA403490342 |
426 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs143873813 CA304547573 |
429 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9105158 rs753854196 |
429 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403490252 rs1204402796 |
432 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763968688 CA9105157 |
433 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1221705597 COSM1229273 CA403490220 |
434 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1260578950 CA403490225 |
434 | P>S | No |
ClinGen gnomAD |
|
|
rs1302225605 CA403490215 |
435 | G>R | No |
ClinGen gnomAD |
|
|
CA304547562 rs770119168 |
436 | R>H | No |
ClinGen Ensembl |
|
|
CA9105154 rs766706840 |
437 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs544182648 CA403490182 |
438 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304258918 CA403490175 |
438 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs544182648 CA9105153 |
438 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304258918 CA403490173 |
438 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1456485558 CA403490148 |
440 | S>N | No |
ClinGen TOPMed |
|
|
rs1464927747 CA403490110 |
443 | Q>* | No |
ClinGen gnomAD |
|
|
CA403490080 rs1400867889 |
445 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 447 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770034965 CA9105151 |
452 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105150 rs748211950 |
453 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA403489924 rs1600053207 |
457 | T>P | No |
ClinGen Ensembl |
|
|
CA9105148 rs769060173 |
459 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA304547500 rs912607337 |
460 | F>L | No |
ClinGen gnomAD |
|
|
CA403489871 rs1458506074 |
461 | D>N | No |
ClinGen gnomAD |
|
|
CA403489850 rs1376015491 |
462 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 462 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403489831 rs1600053170 |
463 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 465 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_084064 | 465 | S>N | no effect on IFNB induction [UniProt] | No | UniProt |
|
CA403489787 rs1600053156 |
467 | H>P | No |
ClinGen Ensembl |
|
|
rs747334545 CA9105146 |
467 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240501361 CA403489789 |
467 | H>Y | No |
ClinGen gnomAD |
|
|
CA304547477 rs986785530 |
469 | V>M | No |
ClinGen Ensembl |
|
|
CA9105144 rs771696411 |
472 | A>T | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA9105143 rs201878837 |
473 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
CA9105142 rs374044969 |
474 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256701940 CA403489695 |
474 | M>T | No |
ClinGen gnomAD |
|
|
CA304547459 rs756715938 |
476 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306575408 CA403489661 |
477 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1306575408 CA403489659 |
477 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403489638 rs1377448921 |
478 | T>M | No |
ClinGen gnomAD |
|
|
CA9105137 rs752524876 |
479 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105138 rs752524876 |
479 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105134 rs750634396 |
481 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105135 rs763237315 |
481 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA9105132 rs761898820 |
483 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403489573 rs769204651 |
484 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA9105130 rs769204651 |
484 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9105131 rs776581496 |
484 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199751361 CA403489558 |
485 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1179770457 CA403489512 |
490 | L>R | No |
ClinGen TOPMed |
|
|
rs1600053068 CA403489483 |
495 | S>P | No |
ClinGen Ensembl |
|
|
rs1260358672 CA403489474 |
496 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304547375 rs1052560323 |
496 | P>S | No |
ClinGen TOPMed |
|
|
CA403489439 rs746263278 |
502 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9105126 rs746263278 |
502 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403489427 rs1600053029 |
503 | T>M | No |
ClinGen Ensembl |
|
|
CA403489425 rs1600053016 |
504 | A>P | No |
ClinGen Ensembl |
|
|
CA9105118 rs754776028 |
510 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287750498 CA403489385 |
511 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9105117 rs765491561 |
512 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762011679 CA304547307 |
512 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762011679 CA9105115 |
512 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105116 rs765491561 |
512 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105113 rs543684306 |
514 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9105112 rs775931722 |
516 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 518 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9105108 rs150740529 |
521 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748943819 CA9105106 |
522 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 524 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403489285 rs1600052919 |
527 | T>P | No |
ClinGen Ensembl |
|
|
CA403489268 rs1257006852 |
529 | K>T | No |
ClinGen TOPMed |
|
|
CA304547271 rs1012551976 |
533 | L>F | No |
ClinGen Ensembl |
|
|
CA9105101 rs142171170 |
534 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168740338 CA403489235 |
534 | Q>P | No |
ClinGen TOPMed |
|
|
rs1400099215 CA403489226 |
535 | A>G | No |
ClinGen gnomAD |
|
|
rs1400099215 CA403489225 |
535 | A>V | No |
ClinGen gnomAD |
|
|
rs779772992 CA9105099 |
536 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs754043860 CA9105097 |
539 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs377509189 CA304547251 |
539 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9105098 rs376286418 |
539 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1460955056 CA403489191 |
541 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 541 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403489179 rs1357331436 |
542 | K>M | No |
ClinGen TOPMed |
|
|
rs1600052827 CA403489169 |
544 | Q>E | No |
ClinGen Ensembl |
|
|
CA9105095 rs756098119 |
546 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403489148 rs774037288 |
547 | R>* | No |
ClinGen gnomAD |
|
|
CA304547239 rs774037288 |
547 | R>G | No |
ClinGen gnomAD |
|
|
rs567288271 CA9105094 |
547 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567288271 CA9105093 |
547 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403489134 rs1211446763 |
550 | R>Q | No |
ClinGen gnomAD |
|
|
CA9105091 COSM1394198 rs146110283 |
550 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9105088 rs550630185 |
555 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769503444 CA9105087 |
556 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA403489084 rs1435372660 |
557 | D>V | No |
ClinGen gnomAD |
|
|
CA9105084 rs768703212 |
558 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403489067 rs1400135507 |
560 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403489051 rs1172020591 |
562 | Q>R | No |
ClinGen gnomAD |
|
|
CA403489043 rs1427361110 |
563 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403489047 rs1467248135 |
563 | A>T | No |
ClinGen gnomAD |
|
|
rs1427361110 CA403489042 |
563 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 564 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403489033 rs1478454282 |
565 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304547185 rs143679494 |
568 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1237489267 CA403489002 |
570 | Y>C | No |
ClinGen gnomAD |
|
|
CA403489005 rs1456278955 |
570 | Y>H | No |
ClinGen gnomAD |
|
|
rs148925210 CA403488977 |
574 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9105079 rs777799844 |
575 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9105078 rs146025102 |
580 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403488914 rs1432416352 |
583 | Q>* | No |
ClinGen TOPMed |
|
|
CA403488912 rs1238346584 |
583 | Q>R | No |
ClinGen gnomAD |
|
|
rs752768415 CA9105077 |
584 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs767639735 CA9105076 |
586 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404572089 CA403488881 |
587 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1404572089 CA403488880 |
587 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9105071 rs773634335 |
595 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA403488830 rs561021962 |
595 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA403488804 rs1459004660 |
599 | T>A | No |
ClinGen gnomAD |
|
|
rs1205209111 CA403488796 |
600 | G>E | No |
ClinGen gnomAD |
|
|
CA403488799 rs1600052634 |
600 | G>R | No |
ClinGen Ensembl |
|
|
CA403488789 rs760290741 |
601 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs760290741 CA9105066 |
601 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772059316 CA9105064 |
602 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1285465360 CA403488781 |
603 | Y>H | No |
ClinGen TOPMed |
|
|
CA9105063 rs371157055 |
603 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272431262 CA403488774 |
604 | G>R | No |
ClinGen gnomAD |
|
|
rs1196941925 COSM998771 CA403488761 |
606 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1196941925 CA403488762 |
606 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9105062 rs377447415 |
606 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 608 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242792048 CA403488746 |
608 | P>S | No |
ClinGen gnomAD |
|
|
CA9105061 rs545638589 |
609 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9105059 rs781426719 |
611 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748411534 CA403488729 |
611 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748411534 CA9105060 |
611 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403488726 rs781426719 |
611 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380324887 CA403488720 |
612 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 617 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147826426 CA9105056 |
618 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201230476 CA9105054 |
619 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9105052 rs761523820 |
620 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9105053 rs765749722 |
620 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113327885 CA9105050 |
623 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760042063 CA9105049 |
625 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 627 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749105540 CA9105043 |
630 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328721015 CA403488603 |
632 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1276340415 CA403488589 |
634 | H>R | No |
ClinGen gnomAD |
|
|
rs780241594 CA9105039 |
635 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750982483 CA9105037 |
638 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304547024 rs945545750 |
640 | T>S | No |
ClinGen Ensembl |
|
|
rs939615253 CA304547019 |
641 | P>S | No |
ClinGen TOPMed |
|
|
CA403488542 rs779591355 |
642 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105035 rs757644032 |
642 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9105036 rs779591355 |
642 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763771528 CA9105032 |
643 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs371551573 CA9105033 |
643 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs762126373 | 643 | P>T | Variant assessed as Somatic; 6.352e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195467807 CA403488530 |
644 | P>L | No |
ClinGen gnomAD |
|
|
CA304546989 rs866241522 |
645 | S>P | No |
ClinGen TOPMed |
|
|
rs1487696328 CA403488527 |
645 | S>Y | No |
ClinGen gnomAD |
|
|
CA403488522 rs1265265917 |
646 | P>A | No |
ClinGen gnomAD |
|
|
CA403488519 rs1378371332 |
646 | P>L | No |
ClinGen TOPMed |
|
|
rs767102846 CA9105029 |
652 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1256733631 CA403488475 |
653 | Q>R | No |
ClinGen gnomAD |
|
|
rs774225442 CA9105027 |
654 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105026 rs766318423 |
656 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 657 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148396522 CA9105024 |
658 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403488433 rs772147268 |
660 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1168527684 CA403488434 |
660 | S>P | No |
ClinGen gnomAD |
|
|
CA9105020 rs772147268 |
660 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1423777381 CA403488426 |
661 | P>L | No |
ClinGen gnomAD |
|
|
rs745954690 CA9105019 |
662 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9105017 rs779499603 |
665 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403488403 rs779499603 |
665 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177683632 CA403488404 |
665 | T>S | No |
ClinGen gnomAD |
|
|
VAR_051418 rs11466724 CA304546946 |
666 | A>T | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA403488384 COSM1394196 rs1464382188 |
669 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9105016 rs757840131 |
670 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9105013 rs755698549 |
671 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9105014 rs755698549 |
671 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260123335 CA403488365 |
672 | Q>R | No |
ClinGen gnomAD |
|
|
rs1232325668 CA403488359 |
673 | S>R | No |
ClinGen gnomAD |
|
|
rs536690750 CA9105010 |
674 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1219577557 CA403488328 |
678 | P>S | No |
ClinGen gnomAD |
|
|
rs766300346 CA9105007 |
679 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9105006 rs749530535 |
680 | I>M | No |
ClinGen ExAC |
|
|
CA403488277 rs772973812 |
683 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376421303 COSM1394195 CA9105002 |
684 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 685 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464116110 CA403488257 |
685 | Q>R | No |
ClinGen gnomAD |
|
|
rs1376651302 CA403488241 |
686 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 687 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403488227 rs1176424540 |
687 | V>L | No |
ClinGen gnomAD |
|
|
CA403488202 rs1378908682 |
689 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1178539097 CA403488183 |
690 | G>E | No |
ClinGen gnomAD |
|
|
rs775729703 CA9105000 |
692 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs772195426 CA9104999 |
692 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs745872856 CA9104998 |
694 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304546868 rs764426478 |
694 | H>R | No |
ClinGen Ensembl |
|
|
CA9104994 CA304546853 CA9104995 rs778249694 |
695 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104996 rs771550869 |
695 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9104997 rs774636609 |
695 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403488031 rs1239184528 |
700 | G>A | No |
ClinGen gnomAD |
|
| VAR_084068 | 702 | Q>R | no effect on IFNB induction [UniProt] | No | UniProt |
|
rs1203336562 CA403487984 |
703 | A>V | No |
ClinGen gnomAD |
|
|
rs1303045695 CA403487979 |
704 | P>S | No |
ClinGen gnomAD |
|
|
CA9104989 rs751058834 |
705 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1476609338 CA403487885 |
710 | E>K | No |
ClinGen TOPMed |
|
|
rs758303498 CA9104987 |
711 | A>T | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q8IUC6
[MIM: 614850]: Encephalopathy, acute, infection-induced, 6, herpes-specific (IIAE6)
A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. {ECO:0000269|PubMed:22105173}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. {ECO:0000269|PubMed:22105173}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome | A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| ripoptosome | A protein complex whose core components are the receptor-interacting serine/threonine-protein kinases RIPK1 and RIPK3 (also called RIP1 and RIP3). Formation of the ripoptosome can induce an extrinsic apoptotic signaling pathway or a necroptotic signaling pathway. The composition of this protein complex may depend on several factors including nature of the signal, cell type and more. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
30 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic signaling pathway | The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. |
| B cell proliferation | The expansion of a B cell population by cell division. Follows B cell activation. |
| cellular response to lipopolysaccharide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| cellular response to oxidised low-density lipoprotein particle stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxidized lipoprotein particle stimulus. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| lipopolysaccharide-mediated signaling pathway | The series of molecular signals initiated by the binding of a lipopolysaccharide (LPS) to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Lipopolysaccharides are major components of the outer membrane of Gram-negative bacteria, making them prime targets for recognition by the immune system. |
| macrophage activation involved in immune response | A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. |
| nitric oxide biosynthetic process | The chemical reactions and pathways resulting in the formation of nitric oxide, nitrogen monoxide (NO), a colorless gas only slightly soluble in water. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of B cell proliferation | Any process that activates or increases the rate or extent of B cell proliferation. |
| positive regulation of chemokine production | Any process that activates or increases the frequency, rate, or extent of chemokine production. |
| positive regulation of cytokine production involved in inflammatory response | Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of macrophage cytokine production | Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
| positive regulation of myeloid dendritic cell cytokine production | Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production. |
| positive regulation of natural killer cell activation | Any process that activates or increases the frequency, rate or extent of natural killer cell activation. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of nitric oxide biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| regulation of protein-containing complex assembly | Any process that modulates the frequency, rate or extent of protein complex assembly. |
| response to exogenous dsRNA | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
| TRIF-dependent toll-like receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a toll-like receptor where the TRIF adaptor mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MACTGPSLPS | AFDILGAAGQ | DKLLYLKHKL | KTPRPGCQGQ | DLLHAMVLLK | LGQETEARIS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LEALKADAVA | RLVARQWAGV | DSTEDPEEPP | DVSWAVARLY | HLLAEEKLCP | ASLRDVAYQE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AVRTLSSRDD | HRLGELQDEA | RNRCGWDIAG | DPGSIRTLQS | NLGCLPPSSA | LPSGTRSLPR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PIDGVSDWSQ | GCSLRSTGSP | ASLASNLEIS | QSPTMPFLSL | HRSPHGPSKL | CDDPQASLVP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EPVPGGCQEP | EEMSWPPSGE | IASPPELPSS | PPPGLPEVAP | DATSTGLPDT | PAAPETSTNY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVECTEGSAG | PQSLPLPILE | PVKNPCSVKD | QTPLQLSVED | TTSPNTKPCP | PTPTTPETSP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PPPPPPPSST | PCSAHLTPSS | LFPSSLESSS | EQKFYNFVIL | HARADEHIAL | RVREKLEALG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VPDGATFCED | FQVPGRGELS | CLQDAIDHSA | FIILLLTSNF | DCRLSLHQVN | QAMMSNLTRQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GSPDCVIPFL | PLESSPAQLS | SDTASLLSGL | VRLDEHSQIF | ARKVANTFKP | HRLQARKAMW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RKEQDTRALR | EQSQHLDGER | MQAAALNAAY | SAYLQSYLSY | QAQMEQLQVA | FGSHMSFGTG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| APYGARMPFG | GQVPLGAPPP | FPTWPGCPQP | PPLHAWQAGT | PPPPSPQPAA | FPQSLPFPQS |
| 670 | 680 | 690 | 700 | 710 | |
| PAFPTASPAP | PQSPGLQPLI | IHHAQMVQLG | LNNHMWNQRG | SQAPEDKTQE | AE |