P48551
PR
Gene name |
IFNAR2 (IFNABR, IFNARB) |
Protein name |
Interferon alpha/beta receptor 2 |
Names |
IFN-R-2, IFN-alpha binding protein, IFN-alpha/beta receptor 2, Interferon alpha binding protein, Type I interferon receptor 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3455 |
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
10 structures for P48551
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1N6U | NMR | - | A | 28-237 | PDB |
| 1N6V | NMR | - | A | 28-237 | PDB |
| 2HYM | NMR | - | A | 28-237 | PDB |
| 2KZ1 | NMR | - | B | 28-237 | PDB |
| 2LAG | NMR | - | B | 28-237 | PDB |
| 3S8W | X-ray | 260 A | A/B/C | 131-232 | PDB |
| 3S9D | X-ray | 200 A | B/D | 37-232 | PDB |
| 3SE3 | X-ray | 400 A | C | 34-232 | PDB |
| 3SE4 | X-ray | 350 A | C | 34-232 | PDB |
| AF-P48551-F1 | Predicted | AlphaFoldDB |
421 variants for P48551
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001523493 RCV000007711 RCV001701719 RCV002326668 VAR_020521 CA118670 rs2229207 |
8 | F>S | Immunodeficiency 45 Mortality risk in patients with severe coronavirus disease (COVID-19) Hepatitis B virus, susceptibility to associated with susceptibility to HVB infection; lower cell surface levels; lower induction of MHC class 1 expression by INF-alpha [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001813168 rs1987287426 RCV002284216 |
53 | S>P | Immunodeficiency 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775739391 RCV000202387 |
104 | E>missing | Immunodeficiency 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300695 rs746319376 RCV002275341 CA10005904 |
356 | E>G | Immunodeficiency 45 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs141164659 CA10005492 |
3 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs111986902 CA320114962 |
4 | S>G | No |
ClinGen Ensembl |
|
|
CA10005494 rs762005656 |
5 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331375284 CA410093728 |
7 | A>T | No |
ClinGen gnomAD |
|
|
rs1451529794 CA410093738 |
8 | F>V | No |
ClinGen gnomAD |
|
|
rs2229207 CA410093740 |
8 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750264158 CA10005495 |
9 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410093765 rs1340060960 |
10 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10005497 rs1051393 |
10 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410093761 rs1051393 |
10 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1051393 CA10005496 VAR_020522 |
10 | F>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs530997490 CA10005498 |
11 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10005499 rs554510864 |
11 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1198227916 CA410093782 |
12 | S>T | No |
ClinGen TOPMed |
|
|
rs752249011 CA10005501 |
13 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1227667824 CA410093812 |
14 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 15 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755873190 CA10005502 |
15 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1040634145 CA410093851 |
16 | V>F | No |
ClinGen gnomAD |
|
|
rs1040634145 CA320115004 |
16 | V>I | No |
ClinGen gnomAD |
|
|
rs777547168 CA10005503 |
18 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1476050885 CA410093900 |
18 | M>T | No |
ClinGen gnomAD |
|
|
rs1286009698 CA410094645 |
19 | V>A | No |
ClinGen gnomAD |
|
|
CA410093916 rs1170127205 |
19 | V>L | No |
ClinGen gnomAD |
|
|
CA10005527 rs781731891 |
20 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354910199 CA410094650 |
20 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10005528 rs143742626 |
22 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773217322 CA10005530 |
23 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA10005532 rs561488102 |
24 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10005533 rs774056629 |
25 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA410094735 rs1179133357 |
26 | G>A | No |
ClinGen TOPMed |
|
|
CA410094760 rs1490350098 |
28 | S>L | No |
ClinGen gnomAD |
|
|
rs765337440 CA10005534 |
30 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10005535 rs767168940 |
31 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463037104 CA410094806 |
32 | P>A | No |
ClinGen TOPMed |
|
|
rs1039974300 CA320117128 |
33 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 34 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10005560 rs750091350 |
35 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs750091350 CA320117150 |
35 | T>S | No |
ClinGen ExAC TOPMed |
|
|
VAR_084099 CA10005561 rs201003373 |
37 | E>Q | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10005562 rs767982536 |
38 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs149204840 CA10005563 |
41 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756652516 CA10005564 |
42 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs9754221 CA320117160 |
42 | K>N | No |
ClinGen TOPMed |
|
|
CA10005565 rs754395606 |
43 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005566 rs749748756 |
43 | I>M | No |
ClinGen ExAC |
|
|
rs1461393554 CA410095529 |
45 | L>S | No |
ClinGen gnomAD |
|
|
rs778657924 CA10005567 |
46 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005568 rs778792208 |
46 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1427913818 CA410095565 |
48 | F>S | No |
ClinGen gnomAD |
|
|
CA10005570 rs533026439 |
49 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005569 rs375487848 |
49 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1217206327 CA410095591 |
50 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1453614680 CA410095689 |
55 | E>D | No |
ClinGen gnomAD |
|
|
CA410095732 rs1359940308 |
57 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410095784 rs1323903015 |
59 | H>Q | No |
ClinGen gnomAD |
|
|
CA10005573 RCV001302296 rs768519080 |
59 | H>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs776766423 CA320117193 |
60 | S>A | No |
ClinGen Ensembl |
|
|
rs1320481549 CA410095816 |
61 | I>S | No |
ClinGen gnomAD |
|
|
CA10005574 rs776739210 |
61 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262883483 CA410095859 |
64 | T>N | No |
ClinGen gnomAD |
|
|
rs769356115 CA10005576 |
65 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211789862 CA410095890 |
65 | H>Q | No |
ClinGen gnomAD |
|
|
rs772583115 CA10005577 |
66 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10005578 rs772583115 |
66 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs138445544 CA10005579 |
67 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372212285 CA320117243 |
67 | T>I | No |
ClinGen Ensembl |
|
|
rs1265189745 CA410095973 |
70 | Y>C | No |
ClinGen gnomAD |
|
|
rs1175494196 CA410096006 |
72 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs368474204 CA10005581 |
72 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005583 rs754347643 |
73 | M>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_084100 CA10005582 rs142850110 |
73 | M>V | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA320118892 rs1010900276 |
79 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 80 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410096720 rs751841284 |
85 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005608 rs751841284 |
85 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410096779 rs1292357667 |
87 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1292357667 CA410096781 |
87 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1415566196 CA410096809 |
88 | T>I | No |
ClinGen TOPMed |
|
|
rs751450811 CA10005609 |
89 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410096842 rs1202241897 |
90 | R>G | No |
ClinGen gnomAD |
|
|
rs781199463 CA10005610 |
90 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410096880 rs1415016364 |
91 | S>L | No |
ClinGen TOPMed |
|
|
rs756124323 CA10005612 |
92 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1568885326 CA410096952 |
94 | D>G | No |
ClinGen Ensembl |
|
|
CA10005613 rs777595314 |
95 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410097039 rs1442820036 |
98 | E>K | No |
ClinGen gnomAD |
|
|
rs1163538014 CA410097051 |
98 | E>V | No |
ClinGen gnomAD |
|
|
CA10005614 rs371406877 |
102 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770432974 CA10005615 |
104 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005616 rs773793948 |
106 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745581365 CA10005617 |
108 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10005618 rs745581365 |
108 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10005621 rs369715958 |
109 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005620 rs140084698 |
109 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410097480 rs1361909552 |
112 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949575492 COSM1592739 CA320118954 |
115 | G>E | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs150825310 CA10005624 |
115 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755290453 CA10005626 |
116 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10005627 rs767824035 |
118 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10005628 rs752913293 |
118 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1369125301 CA410097647 |
119 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10005630 rs578211262 |
121 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166605416 CA410097709 |
123 | S>L | No |
ClinGen gnomAD |
|
|
CA410097735 CA10005632 rs757175174 |
124 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs912377643 CA320119005 |
124 | H>R | No |
ClinGen Ensembl |
|
|
CA320119011 rs943997701 |
125 | N>D | No |
ClinGen Ensembl |
|
|
rs1172401010 CA410097746 |
125 | N>S | No |
ClinGen gnomAD |
|
|
rs943997701 CA320119014 |
125 | N>Y | No |
ClinGen Ensembl |
|
|
rs1403504658 CA410097762 |
126 | F>Y | No |
ClinGen gnomAD |
|
|
CA320119027 rs973054480 |
128 | L>P | No |
ClinGen gnomAD |
|
|
rs778464646 CA10005633 |
128 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA410097841 rs1341724911 |
130 | I>T | No |
ClinGen gnomAD |
|
|
rs1334315234 CA410097829 |
130 | I>V | No |
ClinGen gnomAD |
|
|
RCV001313740 rs1987461458 |
131 | D>E | No |
ClinVar dbSNP |
|
|
rs1601802422 CA410097866 |
131 | D>G | No |
ClinGen Ensembl |
|
|
rs918604306 CA320119041 |
132 | M>V | No |
ClinGen Ensembl |
|
|
CA10005658 rs768348126 |
136 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10005657 rs746695388 |
136 | P>S | No |
ClinGen ExAC gnomAD |
|
| VAR_084101 | 138 | E>V | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No | UniProt |
|
CA410099083 rs1434688402 |
140 | E>A | No |
ClinGen gnomAD |
|
|
CA410099086 rs1389320404 |
140 | E>D | No |
ClinGen TOPMed |
|
|
rs749647077 CA410099080 |
140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749647077 CA10005660 |
140 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563308470 CA10005662 |
143 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10005664 rs549962048 |
146 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320120579 rs549962048 |
146 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410099195 rs1190725243 |
148 | I>S | No |
ClinGen TOPMed |
|
|
rs772058604 CA10005665 |
148 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775627702 CA10005666 |
149 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1303106256 CA410099217 |
150 | V>M | No |
ClinGen gnomAD |
|
|
CA410099289 rs1333086101 |
155 | P>A | No |
ClinGen gnomAD |
|
|
rs764348832 CA10005668 |
157 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1308693345 CA410099318 |
157 | I>V | No |
ClinGen gnomAD |
|
|
rs1376153627 CA410099397 |
162 | L>S | No |
ClinGen gnomAD |
|
|
CA10005670 rs761622575 |
163 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1490294118 CA410099414 |
163 | Q>R | No |
ClinGen gnomAD |
|
|
rs957476911 CA410099457 |
165 | D>E | No |
ClinGen gnomAD |
|
|
rs764980427 CA10005671 |
166 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005672 rs545884061 |
168 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs140533677 CA10005674 |
169 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA320120722 rs1019117722 |
170 | I>V | No |
ClinGen TOPMed |
|
|
CA10005675 rs751046812 |
173 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs144291894 CA10005676 |
173 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410099613 rs1364866381 |
176 | G>R | No |
ClinGen TOPMed |
|
|
CA410099646 rs1295137733 |
178 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1458317423 CA410099637 |
178 | V>I | No |
ClinGen gnomAD |
|
|
rs147789575 CA10005704 |
184 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768789852 CA10005705 |
187 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368797517 CA10005707 |
189 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005706 rs776675228 |
189 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1217179025 CA410100369 |
190 | S>N | No |
ClinGen gnomAD |
|
|
CA410100401 rs532067225 |
192 | N>S | No |
ClinGen TOPMed |
|
|
rs532067225 CA320123859 |
192 | N>T | No |
ClinGen TOPMed |
|
|
CA10005708 rs769970671 |
194 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772274520 CA10005710 |
195 | Y>* | No |
ClinGen ExAC |
|
|
CA410100445 rs1244984889 |
195 | Y>S | No |
ClinGen TOPMed |
|
|
rs17860223 CA10005711 VAR_020523 |
196 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA410100480 rs1433955722 |
197 | I>T | No |
ClinGen gnomAD |
|
|
CA410100497 rs200536427 |
198 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10005717 rs200536427 |
198 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10005719 rs199604818 |
199 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150933837 CA320123906 |
199 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005720 rs150933837 |
199 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410100580 rs1286287301 |
202 | P>L | No |
ClinGen TOPMed |
|
|
CA410100611 rs147496374 |
204 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10005725 rs147496374 RCV000955590 |
204 | T>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758825586 CA10005727 |
205 | N>I | No |
ClinGen ExAC |
|
|
CA320123939 rs980559637 |
206 | Y>F | No |
ClinGen Ensembl |
|
|
CA410100651 rs1332014803 |
207 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 209 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410100709 rs1304251710 |
211 | Y>C | No |
ClinGen gnomAD |
|
|
RCV001299211 CA320123967 rs896211095 |
214 | H>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs747605798 CA10005732 VAR_084102 |
215 | S>G | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10005733 rs755469159 |
215 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA410100752 rs747605798 |
215 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781287049 CA10005734 |
216 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1220605725 CA410100810 |
219 | A>T | No |
ClinGen gnomAD |
|
|
rs748201177 CA10005735 |
220 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA320124014 rs1033823160 |
221 | I>T | No |
ClinGen Ensembl |
|
|
rs960467666 CA320124029 COSM3405361 |
223 | S>F | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs769814080 CA10005736 |
223 | S>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001345804 rs1987951503 |
224 | P>H | No |
ClinVar dbSNP |
|
|
CA10005738 rs375585715 |
228 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10005739 rs199816606 |
230 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774005366 CA10005740 |
230 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382749143 CA410100904 |
232 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA320124045 rs750457645 |
233 | G>S | No |
ClinGen Ensembl |
|
|
rs150495861 CA10005742 |
236 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753832276 CA10005774 |
238 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994624191 CA320129838 |
240 | E>D | No |
ClinGen Ensembl |
|
|
CA410102749 rs866343118 |
242 | A>S | No |
ClinGen TOPMed |
|
|
rs866343118 CA320129840 |
242 | A>T | No |
ClinGen TOPMed |
|
|
rs779027286 CA10005776 |
243 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410102780 rs1304468462 |
244 | I>L | No |
ClinGen TOPMed |
|
|
rs138402252 CA10005778 CA10005777 |
245 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747004525 CA10005780 |
247 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779941156 CA10005779 |
247 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10005782 rs776250783 |
250 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769304952 CA10005784 |
251 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371848732 CA10005785 |
254 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161161223 CA410103030 |
257 | L>F | No |
ClinGen TOPMed |
|
|
rs775827448 CA10005788 |
258 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320129949 rs973165486 |
259 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410103066 rs1477145612 |
259 | S>R | No |
ClinGen TOPMed |
|
|
CA10005791 rs754323542 |
261 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005790 rs764488006 |
261 | I>V | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs757314865 CA10005792 |
266 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA410103179 rs1343115369 |
266 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs918622040 CA320129989 |
268 | G>D | No |
ClinGen TOPMed |
|
|
CA10005793 rs201848104 |
269 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201848104 CA410103231 |
269 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410103255 rs1341185177 |
270 | I>M | No |
ClinGen TOPMed |
|
|
CA10005794 rs115301063 |
271 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568895347 CA410103315 |
274 | N>S | No |
ClinGen Ensembl |
|
|
CA410103344 rs1262923238 |
275 | S>T | No |
ClinGen gnomAD |
|
|
rs1555862436 CA410104430 |
281 | N>Y | No |
ClinGen Ensembl |
|
|
CA320131856 rs866225005 |
282 | F>V | No |
ClinGen Ensembl |
|
|
VAR_084103 rs763508005 CA10005864 |
283 | H>R | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA410104447 rs1300006733 |
283 | H>Y | Variant assessed as Somatic; 0.0001034 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771186711 CA10005865 |
284 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA410104471 rs1283736592 |
286 | L>S | No |
ClinGen gnomAD |
|
|
CA10005866 rs564922011 |
287 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410104481 rs1398799203 |
288 | W>R | No |
ClinGen TOPMed |
|
|
rs1217156311 CA410104489 |
289 | P>T | No |
ClinGen gnomAD |
|
|
rs1243619908 CA410104504 |
291 | P>A | No |
ClinGen gnomAD |
|
|
CA410104512 rs1189629986 |
292 | N>T | No |
ClinGen gnomAD |
|
|
CA320131862 rs145120859 |
293 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
VAR_084104 CA10005868 rs759744926 |
295 | P>L | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10005871 rs138841399 |
298 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410104556 rs1433858392 |
299 | M>T | No |
ClinGen gnomAD |
|
|
CA10005872 rs763834404 |
299 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA410104560 rs1292539503 |
300 | D>N | No |
ClinGen gnomAD |
|
|
CA410104591 rs1191469010 |
304 | V>I | No |
ClinGen TOPMed |
|
|
rs1306452331 CA410104599 |
305 | I>F | No |
ClinGen gnomAD |
|
|
rs1286095475 CA410104607 |
306 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10005874 rs368174012 |
306 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149379041 CA10005877 |
308 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005879 rs547496647 |
309 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1215329754 CA410104640 |
311 | K>E | No |
ClinGen TOPMed |
|
|
rs1236413464 CA410104646 |
311 | K>N | No |
ClinGen gnomAD |
|
|
rs762531373 CA320131951 |
312 | K>R | No |
ClinGen Ensembl |
|
|
rs779764282 CA10005880 |
315 | D>N | No |
ClinGen ExAC gnomAD |
|
|
VAR_084105 rs756571542 CA10005882 |
318 | Y>C | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA10005881 rs746605287 |
318 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs112025774 CA320131966 |
319 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs112025774 CA410104702 |
319 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs959873315 CA320131970 |
323 | D>G | No |
ClinGen TOPMed |
|
|
rs201411274 VAR_084106 CA10005884 |
324 | S>N | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs774353095 CA10005886 |
325 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1391567227 CA410104757 |
327 | E>Q | No |
ClinGen TOPMed |
|
|
CA10005887 rs745974138 |
328 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10005888 rs771978835 |
329 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1410098811 CA410104782 |
331 | R>K | No |
ClinGen TOPMed |
|
|
rs763923992 CA10005891 |
332 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410104789 rs1227575396 |
332 | T>S | No |
ClinGen gnomAD |
|
|
rs1165831556 CA410104801 |
334 | G>S | No |
ClinGen TOPMed |
|
|
CA410104808 rs1256240256 |
335 | G>D | No |
ClinGen gnomAD |
|
|
CA10005893 rs761802313 |
335 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA748817181 rs1467539645 |
337 | Y>* | No |
ClinGen TOPMed |
|
|
rs750265484 CA10005895 |
338 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200920080 CA10005896 |
339 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs978686682 CA320132056 |
339 | M>V | No |
ClinGen TOPMed |
|
|
rs530146345 CA10005897 |
340 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1168049661 CA410104909 |
344 | V>D | No |
ClinGen gnomAD |
|
|
rs751307721 CA10005898 |
345 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA410104926 rs1601821446 |
345 | R>S | No |
ClinGen Ensembl |
|
|
rs148519830 CA410104932 |
346 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 346 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10005899 rs148519830 VAR_084107 |
346 | P>S | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568897627 CA410104955 |
348 | G>R | No |
ClinGen Ensembl |
|
|
rs1357422967 CA410105000 |
351 | S>A | No |
ClinGen gnomAD |
|
|
rs757637966 CA10005902 |
351 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA410105024 rs1156249093 |
353 | T>A | No |
ClinGen gnomAD |
|
|
CA10005903 rs200443135 |
354 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410105052 rs1319077532 |
355 | T>A | No |
ClinGen Ensembl |
|
|
CA410105057 rs1357053108 |
355 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10005908 rs768858626 |
361 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA410105121 rs1303884721 |
361 | D>G | No |
ClinGen TOPMed |
|
|
rs747270386 CA10005907 |
361 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441207963 CA410105125 |
362 | P>A | No |
ClinGen gnomAD |
|
|
CA10005909 rs776463241 RCV001315612 |
362 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA410105126 VAR_084108 rs1441207963 |
362 | P>S | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
|
rs764904699 CA10005911 |
364 | S>C | No |
ClinGen ExAC |
|
| TCGA novel | 365 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147228568 CA10005913 |
365 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 367 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10005914 rs765955510 |
367 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs751111321 CA10005915 |
368 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10005917 rs185586873 |
369 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10005916 rs559328944 |
369 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201378646 CA410105207 |
374 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10005919 rs552702462 |
375 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410105216 rs1397963219 |
376 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1397963219 CA410105217 |
376 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200934084 CA10005921 |
378 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10005922 rs758797322 |
379 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10005923 rs780171388 |
379 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_084109 rs1231284605 CA410105280 |
385 | P>L | no effect on activation of STAT1 upon IFNA2 or IFNG binding [UniProt] | No |
ClinGen UniProt TOPMed dbSNP |
|
CA10005927 rs781428787 |
390 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748323942 CA410105324 |
392 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748323942 CA10005928 |
392 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005929 rs144384060 |
392 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410105334 rs1449154331 |
393 | G>A | No |
ClinGen gnomAD |
|
|
rs1601821691 CA410105330 |
393 | G>R | No |
ClinGen Ensembl |
|
|
CA410105340 rs1371930940 |
394 | P>L | No |
ClinGen TOPMed |
|
|
CA10005932 rs770762649 |
394 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1350675716 CA410105354 |
396 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1173689837 CA410105357 |
397 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1003170926 CA320132218 |
398 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774374848 CA10005934 |
399 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs759122271 CA10005935 |
400 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs372127736 CA320132240 |
401 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372127736 CA10005936 |
401 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372127736 CA10005937 |
401 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005938 rs760221796 |
402 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410105400 rs1160417326 |
404 | D>N | No |
ClinGen TOPMed |
|
|
rs758998735 CA10005941 |
408 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200566022 CA10005942 |
409 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410105437 rs1238531947 |
409 | E>K | No |
ClinGen gnomAD |
|
|
rs139071443 CA10005944 |
410 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10005943 rs376817059 |
410 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410105452 rs1287358692 |
411 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs781229655 CA10005945 |
412 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA320132309 rs200511352 |
413 | S>A | No |
ClinGen 1000Genomes |
|
|
CA10005949 rs369534116 |
414 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10005948 rs369534116 |
414 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs56050449 CA10005947 |
414 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774460880 CA410105479 CA10005951 |
416 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs954994673 CA320132336 |
419 | G>C | No |
ClinGen Ensembl |
|
|
rs1568897922 CA410105503 |
420 | R>K | No |
ClinGen Ensembl |
|
|
rs1388936253 CA410105515 |
422 | T>A | No |
ClinGen gnomAD |
|
|
CA410105563 rs1216324895 |
428 | N>T | No |
ClinGen TOPMed |
|
|
CA10005955 rs775107055 |
429 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs968523260 CA320132393 |
430 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 432 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10005957 rs763638771 |
432 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005960 rs144891843 |
434 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005959 rs144891843 |
434 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs1355601240 CA410105603 |
435 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1241672936 CA410105605 |
435 | L>P | No |
ClinGen gnomAD |
|
|
CA410105602 rs1355601240 |
435 | L>V | No |
ClinGen TOPMed |
|
|
rs1568897976 CA410105620 |
437 | D>G | No |
ClinGen Ensembl |
|
|
CA10005962 rs755448797 |
438 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274538838 CA410105635 |
439 | D>E | No |
ClinGen gnomAD |
|
|
rs149040664 CA10005963 |
439 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456035107 CA410105640 |
440 | S>N | No |
ClinGen gnomAD |
|
|
CA410105651 rs147568312 |
441 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1251211762 CA410105653 |
442 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10005965 rs756162995 |
443 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA10005966 rs181574958 |
444 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410105668 rs1453573070 |
444 | E>Q | No |
ClinGen TOPMed |
|
|
rs1343943636 CA410105677 |
445 | A>D | No |
ClinGen TOPMed |
|
|
CA410105684 rs1475003822 |
446 | P>L | No |
ClinGen gnomAD |
|
|
rs749487628 CA10005968 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757139087 CA410105696 CA10005969 |
448 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417276764 CA410105702 |
449 | L>P | No |
ClinGen TOPMed |
|
|
CA320132490 rs866733383 VAR_084110 |
450 | S>L | Variant assessed as Somatic; impact. no effect on activation of STAT1 upon IFNA2 or IFNG binding [NCI-TCGA, UniProt] | No |
ClinGen UniProt NCI-TCGA TOPMed dbSNP |
|
CA10005973 rs369040448 |
452 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10005974 rs775120191 |
453 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410105733 rs1485446524 |
455 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746511489 CA10005975 |
456 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA410105749 rs1355181181 |
457 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410105767 rs1215513727 |
459 | P>R | No |
ClinGen TOPMed |
|
|
CA10005976 rs768141783 |
460 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10005977 rs776173853 |
462 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761508724 CA10005978 |
464 | N>D | No |
ClinGen ExAC |
|
|
rs1226146327 CA410105799 |
464 | N>T | No |
ClinGen gnomAD |
|
|
CA320132546 rs1044245277 |
465 | V>G | No |
ClinGen Ensembl |
|
|
CA320132548 rs907001995 |
466 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 469 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 470 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10005980 rs373771077 |
471 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs938510238 CA320132558 |
471 | L>R | No |
ClinGen Ensembl |
|
|
CA10005982 rs768028214 |
474 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10005984 rs756179950 |
475 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1360373883 CA410105888 |
478 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1476960733 CA410106072 |
478 | Q>H | No |
ClinGen gnomAD |
|
|
CA410105889 rs1328457206 |
478 | Q>L | No |
ClinGen TOPMed |
|
|
rs754056269 CA10005986 |
480 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1442317962 CA410106108 |
481 | F>L | No |
ClinGen TOPMed |
|
|
rs757519908 CA10005987 |
482 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA10005989 rs745642111 |
483 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10005991 rs779856537 |
484 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10005990 rs758207930 |
484 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410106179 rs1427654176 |
485 | S>F | No |
ClinGen TOPMed |
|
|
CA320137591 rs780469785 |
488 | G>S | No |
ClinGen gnomAD |
|
|
CA10005993 rs768103564 |
488 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs776179020 CA10005994 |
489 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231000376 CA410106240 |
490 | W>* | No |
ClinGen gnomAD |
|
|
CA410106235 rs1308703058 |
490 | W>R | No |
ClinGen gnomAD |
|
|
rs747865261 CA10005995 |
491 | S>F | No |
ClinGen ExAC |
|
|
rs145087122 CA10005997 |
492 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10005998 rs145087122 |
492 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212839452 CA410106279 |
494 | A>G | No |
ClinGen gnomAD |
|
|
rs1260744596 CA410106281 |
495 | P>S | No |
ClinGen gnomAD |
|
|
CA410106304 rs186972450 |
498 | Q>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs186972450 CA320137634 |
498 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1252363233 CA410106319 |
500 | D>G | No |
ClinGen TOPMed |
|
|
CA410106336 rs1207548010 |
503 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 504 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410106352 rs1262545329 |
505 | D>G | No |
ClinGen gnomAD |
|
|
rs767884225 CA10005999 |
505 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA410106357 rs775885380 |
506 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10006001 rs761222251 |
506 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10006000 rs775885380 |
506 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1568898260 CA410106404 |
513 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 513 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10006002 rs45513593 |
515 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with P48551
[MIM: 616669]: Immunodeficiency 45 (IMD45)
An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. {ECO:0000269|PubMed:26424569}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. {ECO:0000269|PubMed:26424569}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytokine receptor activity | Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| 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. |
| type I interferon binding | Binding to a type I interferon. Type I interferons include the interferon-alpha, beta, delta, epsilon, zeta, kappa, tau, and omega gene families. |
| type I interferon receptor activity | Combining with a type I interferon and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Type I interferons include the interferon-alpha, beta, delta, epsilon, zeta, kappa, tau, and omega gene families. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| cellular response to virus | 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 stimulus from a virus. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| response to interferon-alpha | 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 interferon-alpha stimulus. Interferon-alpha is a type I interferon. |
| response to interferon-beta | 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 interferon-beta stimulus. Interferon-beta is a type I interferon. |
| response to virus | 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 a stimulus from a virus. |
| type I interferon signaling pathway | The series of molecular signals initiated by type I interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08334 | IL10RB | Interleukin-10 receptor subunit beta | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLSQNAFIF | RSLNLVLMVY | ISLVFGISYD | SPDYTDESCT | FKISLRNFRS | ILSWELKNHS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IVPTHYTLLY | TIMSKPEDLK | VVKNCANTTR | SFCDLTDEWR | STHEAYVTVL | EGFSGNTTLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SCSHNFWLAI | DMSFEPPEFE | IVGFTNHINV | MVKFPSIVEE | ELQFDLSLVI | EEQSEGIVKK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HKPEIKGNMS | GNFTYIIDKL | IPNTNYCVSV | YLEHSDEQAV | IKSPLKCTLL | PPGQESESAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SAKIGGIITV | FLIALVLTST | IVTLKWIGYI | CLRNSLPKVL | NFHNFLAWPF | PNLPPLEAMD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MVEVIYINRK | KKVWDYNYDD | ESDSDTEAAP | RTSGGGYTMH | GLTVRPLGQA | SATSTESQLI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DPESEEEPDL | PEVDVELPTM | PKDSPQQLEL | LSGPCERRKS | PLQDPFPEED | YSSTEGSGGR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ITFNVDLNSV | FLRVLDDEDS | DDLEAPLMLS | SHLEEMVDPE | DPDNVQSNHL | LASGEGTQPT |
| 490 | 500 | 510 | |||
| FPSPSSEGLW | SEDAPSDQSD | TSESDVDLGD | GYIMR |