Q96JX3
PR
Gene name |
SERAC1 |
Protein name |
Protein SERAC1 |
Names |
Serine active site-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84947 |
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
1 structures for Q96JX3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96JX3-F1 | Predicted | AlphaFoldDB |
490 variants for Q96JX3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs139301835 CA366249982 RCV000616269 |
7 | C>* | Mitochondrial oxidative phosphorylation disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000987811 rs139301835 RCV000200793 CA325378 |
7 | C>W | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000879586 CA4071489 rs115387731 |
8 | V>I | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001080310 CA321944 rs147194699 RCV000441637 RCV001727630 |
21 | P>L | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000128021 CA293460 rs34270473 RCV000430682 RCV001084834 |
30 | I>T | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000698201 CA4071480 rs146896149 |
31 | R>G | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000896889 rs754630732 RCV001585860 |
34 | I>missing | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA293462 RCV000128022 RCV001512866 RCV000676843 rs112780453 |
47 | F>I | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA267611 rs529232938 RCV000106307 |
68 | R>* | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (megdel) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001345991 rs1384614641 CA366266716 RCV001090780 |
68 | R>Q | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001261649 rs1785136807 |
103 | R>missing | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4071378 rs191208250 RCV000938662 |
122 | S>G | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002517260 rs147085187 RCV001314802 RCV000200075 CA324637 |
131 | C>R | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA321677 RCV000197235 RCV001213095 rs863224200 |
138 | R>Q | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002555912 rs370340688 RCV001071841 CA4071370 |
140 | S>G | Inborn genetic diseases 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1583595091 RCV000850598 |
147 | T>missing | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000610930 RCV000861165 CA4071369 rs114443105 |
147 | T>M | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000414395 rs387907236 CA260099 RCV000029218 |
148 | R>* | Variant assessed as Somatic; 0.0 impact. 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (megdel) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA4071335 RCV001234427 rs536508664 |
175 | P>L | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001851048 CA4071328 rs543967244 RCV000427047 |
185 | E>K | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs576602246 RCV000676841 CA4071324 RCV001861853 |
189 | L>R | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4071322 rs564717592 RCV000808432 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs375757326 RCV000728088 CA4071290 RCV000802903 RCV002535056 |
225 | E>G | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA366262893 RCV000991378 rs1583589537 |
233 | L>* | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001089492 CA4071236 rs780664696 RCV001664677 |
306 | R>* | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (megdel) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4071235 RCV000972115 RCV000426501 rs114943513 |
306 | R>Q | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA366259970 rs1449129513 RCV001043255 |
311 | C>F | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA366259951 RCV001333375 rs1455975616 |
312 | P>L | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs537530231 RCV000694845 CA4071193 |
362 | I>F | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000520896 RCV002298640 rs758745099 CA4071192 |
368 | R>* | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001250054 CA319919 RCV000195564 rs199632531 |
376 | Q>* | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA366258617 rs1220930025 RCV000514727 RCV001526393 |
387 | R>* | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_068442 | 401 | G>D | MEGDEL [UniProt] | Yes | UniProt |
| VAR_068443 | 404 | G>E | MEGDEL [UniProt] | Yes | UniProt |
|
rs367903368 RCV001057291 CA4071155 |
424 | M>V | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4071149 RCV001072002 rs779852958 RCV001759852 |
431 | T>M | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4071117 rs767870142 RCV001337509 |
455 | T>S | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs189064007 RCV001069770 CA4071113 |
459 | D>N | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000438822 RCV000861161 rs115459512 CA4071110 |
466 | M>L | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000029221 VAR_068444 rs1199625391 |
479 | L>missing | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDEL [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_068444 rs1199625391 |
479 | L>del | MEGDEL [UniProt] | Yes |
UniProt dbSNP |
|
rs370591885 RCV000197012 CA321443 RCV003114358 RCV003165457 |
495 | I>L | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000479118 CA16618270 RCV002526974 rs1064796860 |
497 | H>Q | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_068445 RCV000809456 RCV001779079 CA4071061 rs201941476 |
498 | S>T | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (megdel) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDEL [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002515431 RCV000197405 CA321860 rs751450632 |
512 | S>F | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143065058 RCV001664654 RCV001063965 CA4071023 |
513 | T>M | Variant assessed as Somatic; 0.0 impact. 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_080230 rs1554261079 CA366255111 RCV000515616 |
526 | G>E | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (megdel) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDEL; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000029222 RCV000195622 rs767780913 |
544 | V>missing | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756639108 RCV001349616 CA4071013 |
547 | R>H | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000494711 rs761964407 |
550 | L>missing | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240600 RCV002563978 rs146410859 CA4070951 |
563 | S>C | Inborn genetic diseases 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001332719 RCV001664834 rs770661156 |
588 | V>missing | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325604 CA4070942 rs756012789 |
588 | V>M | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1020569740 RCV000799821 CA150912975 |
589 | E>K | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs768913919 RCV002588371 CA320094 |
639 | R>H | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768913919 RCV000197976 RCV001853197 CA322449 |
639 | R>P | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4071494 rs764587456 |
2 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770263972 CA4071491 |
5 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366249993 rs1211833826 |
6 | Y>C | No |
ClinGen gnomAD |
|
|
CA366249965 rs1331833238 |
10 | C>S | No |
ClinGen gnomAD |
|
|
rs777903964 CA4071487 |
11 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1228060372 CA366249954 |
12 | R>G | No |
ClinGen gnomAD |
|
|
CA150893232 rs931927044 |
12 | R>K | No |
ClinGen Ensembl |
|
|
rs771912083 CA4071486 |
14 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4071485 rs747948326 |
16 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA366249909 rs1478428250 |
19 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4071484 rs754908475 |
23 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs112219705 CA150893158 |
24 | G>V | No |
ClinGen Ensembl |
|
|
CA366249868 rs1458893341 |
26 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1390674362 CA366249865 |
26 | H>R | No |
ClinGen gnomAD |
|
|
rs1458893341 CA366249867 |
26 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1404505029 CA366249840 |
29 | D>E | No |
ClinGen gnomAD |
|
|
CA4071482 rs779737059 |
29 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779737059 CA4071483 |
29 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA366268319 rs1230843239 |
32 | N>S | No |
ClinGen gnomAD |
|
|
rs1451261581 CA366268283 |
34 | I>M | No |
ClinGen TOPMed |
|
|
CA4071459 rs377307138 |
35 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562458727 CA366268265 |
35 | K>R | No |
ClinGen Ensembl |
|
|
CA4071457 rs755302827 |
40 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1410480111 CA366267005 |
44 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746646091 CA4071441 |
45 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs754265814 CA4071439 |
48 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA150949592 rs566879604 |
51 | E>G | No |
ClinGen TOPMed |
|
|
CA4071438 rs766695304 |
53 | L>P | No |
ClinGen ExAC |
|
|
CA4071437 rs756658838 |
54 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1263819951 CA366266891 |
54 | A>V | No |
ClinGen gnomAD |
|
|
rs1208262344 CA366266841 |
58 | A>P | No |
ClinGen gnomAD |
|
|
rs1208262344 CA366266839 |
58 | A>T | No |
ClinGen gnomAD |
|
|
rs547264676 CA4071436 |
58 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs997433129 CA150949568 |
59 | V>L | No |
ClinGen Ensembl |
|
|
CA366266822 rs1254977598 |
60 | T>I | No |
ClinGen gnomAD |
|
|
rs1336163382 CA366266744 |
66 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 71 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4071435 rs761888911 |
71 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA150949557 rs186243817 |
73 | S>* | No |
ClinGen 1000Genomes |
|
|
rs1456252730 CA366266649 |
73 | S>P | No |
ClinGen gnomAD |
|
|
rs371188734 CA4071434 |
74 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764436778 CA4071433 |
76 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA366266614 rs1162028191 |
76 | Y>H | No |
ClinGen gnomAD |
|
|
rs886041750 RCV000305199 |
77 | V>missing | No |
ClinVar dbSNP |
|
| rs886041750 | 77 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366266574 rs1185942932 |
79 | T>A | No |
ClinGen gnomAD |
|
|
CA366266566 rs1425777692 |
79 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 84 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376468988 CA150949527 |
85 | G>E | No |
ClinGen Ensembl |
|
|
rs863224199 RCV000200610 CA325194 |
87 | N>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775467089 CA366266449 |
88 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775467089 CA4071432 |
88 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407108683 CA366266308 |
91 | A>P | No |
ClinGen gnomAD |
|
|
rs1366554838 CA366266295 |
92 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1366554838 CA366266296 |
92 | W>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 95 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307864794 CA366266257 |
95 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366266215 rs1391802516 |
98 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA150948478 rs372028482 |
101 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs866159370 CA150948473 |
101 | A>V | No |
ClinGen Ensembl |
|
|
CA366266159 rs1376948920 |
103 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1376948920 CA366266161 |
103 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA366266143 rs1172014088 |
104 | K>N | No |
ClinGen gnomAD |
|
|
rs1435041023 CA366266148 |
104 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366266125 rs1283379023 |
106 | L>W | No |
ClinGen TOPMed |
|
|
CA4071405 rs765155653 |
107 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366266091 rs1258024323 |
109 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA150948448 rs368403843 |
110 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 111 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA150948443 rs375547220 |
112 | I>L | No |
ClinGen ESP |
|
|
CA366266051 rs1481831224 |
112 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1197952016 CA366266056 |
112 | I>T | No |
ClinGen TOPMed |
|
|
CA4071401 rs199580632 |
114 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372754952 CA4071402 |
114 | R>W | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 122 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs191208250 CA4071379 |
122 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4071377 rs376073794 |
124 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4071376 rs768365938 |
126 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4071375 rs748863936 |
128 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1184837154 CA366264856 |
129 | H>P | No |
ClinGen gnomAD |
|
|
rs1207351763 CA366264749 |
136 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA366264746 rs1207351763 |
136 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4071372 rs148861818 |
138 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366264677 rs1583595108 |
142 | S>A | No |
ClinGen Ensembl |
|
|
rs1364510981 CA366264656 |
144 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1245612545 CA366264640 |
145 | K>R | No |
ClinGen TOPMed |
|
|
rs376922578 CA4071366 |
148 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4071365 rs376922578 |
148 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1583595071 CA366264620 |
149 | L>R | No |
ClinGen Ensembl |
|
|
rs761737122 CA4071363 |
150 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4071362 rs374076900 |
150 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763490840 CA4071361 |
151 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583595034 CA366264602 |
152 | V>G | No |
ClinGen Ensembl |
|
|
rs370639046 CA150947039 |
152 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs549677025 CA4071360 |
153 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA150947033 rs114627933 |
153 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA366264594 rs1583595005 |
154 | E>G | No |
ClinGen Ensembl |
|
|
CA4071358 CA4071359 rs758278653 |
155 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4071357 rs528155939 |
156 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772743170 CA4071355 |
158 | T>I | No |
ClinGen ExAC |
|
|
rs1294455092 CA366264563 |
159 | H>Y | No |
ClinGen gnomAD |
|
|
rs1246963925 CA366264549 |
161 | W>R | No |
ClinGen gnomAD |
|
|
rs1216556081 CA366264367 |
163 | D>G | No |
ClinGen TOPMed |
|
|
rs775222371 CA4071340 |
164 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057523999 CA16604905 RCV000431963 |
165 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1057523999 CA366264356 |
165 | Q>K | No |
ClinGen gnomAD |
|
|
rs113813555 CA4071339 |
165 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA150945026 rs113813555 |
165 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs759233428 CA4071338 |
166 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1185785023 CA366264335 |
168 | I>L | No |
ClinGen TOPMed |
|
|
rs772515819 CA4071336 |
170 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1405332622 CA366264318 |
171 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA150944997 rs1003030757 |
175 | P>S | No |
ClinGen TOPMed |
|
|
rs1463240380 TCGA novel CA366264278 |
176 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA366264270 rs768790092 |
177 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768790092 CA4071333 |
177 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366264264 rs1174819134 |
178 | L>F | No |
ClinGen gnomAD |
|
|
rs749390027 CA4071332 |
179 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366264240 rs1159191828 |
180 | G>C | No |
ClinGen TOPMed |
|
|
CA4071331 rs780182065 |
183 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770465746 CA150944966 |
183 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4071330 rs770465746 |
183 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751502321 CA4071326 CA4071327 |
186 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1210314327 CA366264174 |
186 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs576602246 CA4071325 |
189 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366264112 rs1488035953 |
190 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759282784 CA366264107 |
191 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4071321 rs759282784 |
191 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs762206621 CA4071318 |
193 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4071319 rs767996233 |
193 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4071315 rs769113394 |
194 | L>R | No |
ClinGen ExAC |
|
|
CA366264054 rs1373697156 |
195 | P>L | No |
ClinGen gnomAD |
|
|
CA4071313 rs546374310 |
195 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366264041 rs907800844 |
196 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs907800844 CA150944897 |
196 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 200 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746120525 CA4071310 |
200 | S>P | No |
ClinGen ExAC TOPMed |
|
|
CA366263975 rs1208554576 |
202 | K>R | No |
ClinGen TOPMed |
|
|
CA366263440 rs1192726389 |
204 | D>Y | No |
ClinGen TOPMed |
|
|
CA366263381 rs1434992625 |
207 | T>S | No |
ClinGen gnomAD |
|
|
rs1383515185 CA366263337 |
209 | E>* | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (megdel) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs1383515185 CA366263344 |
209 | E>Q | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (megdel) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA4071296 rs751912884 |
213 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA366263246 rs1454643516 |
213 | Q>K | No |
ClinGen gnomAD |
|
|
rs866485118 CA150943717 |
215 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1007441782 CA366263194 |
215 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1446724946 CA366263147 |
217 | S>F | No |
ClinGen gnomAD |
|
|
rs764501974 CA4071295 |
218 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4071294 rs763396573 |
219 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4071292 rs765305473 |
221 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458809393 CA366263054 |
222 | E>G | No |
ClinGen TOPMed |
|
|
rs1243289662 CA366262990 |
226 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4071289 rs776681166 |
226 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1455059751 CA366262966 |
227 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747230275 CA4071287 |
229 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4071288 rs771181400 |
229 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4071286 rs772904813 |
230 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1325137907 CA366262906 |
231 | T>I | No |
ClinGen gnomAD |
|
|
rs748036267 CA4071284 |
235 | L>F | No |
ClinGen ExAC |
|
|
rs1322437504 CA366262860 |
236 | S>I | No |
ClinGen TOPMed |
|
|
CA366262839 rs1383309220 |
238 | S>N | No |
ClinGen gnomAD |
|
|
CA366262814 rs754950871 |
240 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754950871 CA4071282 |
240 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA150943654 rs751700551 |
243 | A>T | No |
ClinGen Ensembl |
|
|
CA366262767 rs1583589481 |
245 | Q>K | No |
ClinGen Ensembl |
|
|
rs1487288894 CA366262765 |
245 | Q>R | No |
ClinGen TOPMed |
|
|
rs1446267475 CA366260833 |
247 | G>V | No |
ClinGen Ensembl |
|
|
CA4071266 rs748029010 |
248 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1334826503 CA366260812 |
249 | L>S | No |
ClinGen TOPMed |
|
|
rs571113650 CA4071264 |
258 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA150933642 rs978448154 |
259 | Y>* | No |
ClinGen gnomAD |
|
|
CA4071262 rs202197657 |
259 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1481308879 CA366260656 |
263 | F>S | No |
ClinGen gnomAD |
|
|
rs867355190 CA150933635 |
266 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 271 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964880205 CA150933623 |
272 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4071260 rs745512283 |
273 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA366260543 rs1195875932 |
274 | F>C | No |
ClinGen gnomAD |
|
|
CA366260541 rs12524871 |
274 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780840136 CA4071259 |
275 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366260533 rs1267150398 |
275 | C>Y | No |
ClinGen TOPMed |
|
|
rs1225687212 CA366260502 |
277 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1324673170 CA366260490 |
279 | I>V | No |
ClinGen gnomAD |
|
|
rs1210006979 CA366260474 |
280 | V>G | No |
ClinGen TOPMed |
|
|
rs753128238 CA4071257 |
282 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs753128238 CA4071258 |
282 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs765563177 CA4071256 |
283 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4071243 rs745441822 |
285 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1359674916 CA366260340 |
286 | S>A | No |
ClinGen gnomAD |
|
|
rs894650163 CA150931968 |
287 | T>K | No |
ClinGen TOPMed |
|
|
CA366260320 rs1234686550 |
288 | H>P | No |
ClinGen gnomAD |
|
|
rs770659012 CA4071241 |
291 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA150931934 rs1006287320 |
292 | I>V | No |
ClinGen Ensembl |
|
|
CA4071239 rs779278703 |
293 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1443677629 CA366260206 |
295 | N>I | No |
ClinGen gnomAD |
|
|
rs146738735 CA150931877 |
308 | H>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1299699387 CA366260006 |
309 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4071234 rs750554251 |
309 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1254118854 CA366259991 |
310 | D>G | No |
ClinGen TOPMed |
|
|
rs767469564 CA4071233 |
314 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs762121170 CA4071232 |
315 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4071231 rs79569004 |
317 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1317166373 CA366259826 |
319 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs576130525 CA4071230 |
320 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA150931828 rs79231187 |
320 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA366259795 rs1172869211 |
321 | V>A | No |
ClinGen TOPMed |
|
|
CA4071229 rs762778678 |
322 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4071226 rs769839222 |
325 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4071227 rs775411931 |
325 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4071225 rs759361491 |
326 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363338624 CA366259650 |
330 | H>Q | No |
ClinGen gnomAD |
|
|
CA4071224 rs776226280 |
331 | L>R | No |
ClinGen ExAC TOPMed |
|
|
rs770304974 CA4071223 |
333 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs377093909 CA4071221 |
334 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771696248 CA4071220 |
335 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443098937 CA366259544 |
337 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4071219 rs372526589 |
337 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 338 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366259533 rs1264343459 |
338 | S>P | No |
ClinGen gnomAD |
|
|
CA323628 rs1554261766 |
341 | V>I | No |
ClinGen Ensembl |
|
|
RCV001263330 rs1784395214 |
343 | I>F | No |
ClinVar dbSNP |
|
|
rs1386979073 CA366258881 |
347 | A>T | No |
ClinGen gnomAD |
|
|
rs775942481 CA4071200 |
348 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4071201 rs747773409 |
348 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771747751 CA4071202 |
348 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs770016317 CA4071199 |
349 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs997768982 CA150920421 |
350 | S>Y | No |
ClinGen Ensembl |
|
|
CA366258852 rs1252219955 |
351 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 351 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900804918 CA150920417 |
352 | H>Q | No |
ClinGen TOPMed |
|
|
rs1196293288 CA366258841 |
353 | I>T | No |
ClinGen TOPMed |
|
|
CA4071198 rs746393752 |
353 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs557238627 CA4071197 |
354 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366258837 rs1466080349 |
354 | M>L | No |
ClinGen TOPMed |
|
|
CA4071195 rs757825963 |
359 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1242653551 CA366258788 |
361 | R>T | No |
ClinGen gnomAD |
|
|
CA4071191 rs776921194 |
368 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA150920342 rs143373231 |
370 | T>I | No |
ClinGen ESP |
|
|
rs765083651 CA4071190 |
371 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1335562972 CA366258672 |
379 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4071187 rs376658395 |
380 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA366258635 rs1275339909 |
384 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1562435747 CA366258632 |
385 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 387 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367781123 CA150920274 |
388 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs761561557 CA4071183 |
389 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4071170 rs779061767 |
390 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1357816966 CA366257914 |
392 | I>T | No |
ClinGen gnomAD |
|
|
rs1265569150 CA366257890 |
394 | A>E | No |
ClinGen gnomAD |
|
|
CA4071168 rs755223330 |
396 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA366257856 rs1211431584 |
397 | L>R | No |
ClinGen TOPMed |
|
|
CA4071165 rs756065709 |
404 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1301488519 CA366257772 |
405 | A>E | No |
ClinGen gnomAD |
|
|
CA4071164 rs750317383 |
409 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA366257707 rs1167473358 |
411 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs139667110 CA4071163 |
411 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139667110 CA366257704 |
411 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1057506703 CA150919406 |
412 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1172495602 CA366257689 |
413 | Q>E | No |
ClinGen gnomAD |
|
|
CA4071162 rs761173767 |
415 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs186976994 CA4071161 |
416 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA366257614 rs763724831 |
418 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs763724831 CA4071160 |
418 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1453031942 CA366257611 |
419 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs114741005 CA4071159 |
420 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs905314990 CA150919352 |
421 | E>G | No |
ClinGen Ensembl |
|
|
CA4071158 rs777185691 |
421 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771375085 CA4071157 |
422 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4071152 rs779015488 |
424 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4071153 rs748242579 |
424 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs367903368 CA4071154 |
424 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA150919264 rs893026652 |
426 | D>E | No |
ClinGen Ensembl |
|
|
CA4071151 rs768806488 |
426 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA150919278 rs763936729 |
426 | D>V | No |
ClinGen Ensembl |
|
|
rs1331902072 CA366257467 |
429 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1461780331 CA366257448 |
430 | Y>C | No |
ClinGen TOPMed |
|
|
CA4071148 rs780982964 |
432 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA366257395 rs1428321684 |
433 | C>Y | No |
ClinGen gnomAD |
|
|
CA366257374 rs1583562789 |
434 | W>C | No |
ClinGen Ensembl |
|
|
rs746917023 CA4071124 |
440 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA150918006 rs767453633 |
441 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366257100 rs1443324681 |
442 | D>V | No |
ClinGen gnomAD |
|
|
rs1284072272 CA366257083 |
443 | C>F | No |
ClinGen gnomAD |
|
|
rs553879407 CA4071123 |
445 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4071122 rs553879407 |
445 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752239703 CA4071121 |
447 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4071119 rs754645464 |
449 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4071120 rs80329524 |
449 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000199325 rs780275814 |
451 | V>missing | No |
ClinVar dbSNP |
|
|
rs1325254139 CA366256922 |
453 | Y>* | No |
ClinGen TOPMed |
|
|
CA4071118 rs750863246 |
454 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767870142 CA366256878 |
455 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317459017 CA366256893 |
455 | T>P | No |
ClinGen gnomAD |
|
|
CA366256865 rs1362072110 |
457 | L>I | No |
ClinGen gnomAD |
|
|
CA4071115 rs138536589 |
458 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4071112 rs775543457 |
459 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189064007 CA4071114 |
459 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473447679 CA366256817 |
462 | A>T | No |
ClinGen gnomAD |
|
|
CA150917916 rs1015851973 |
462 | A>V | No |
ClinGen TOPMed |
|
|
rs1226474627 CA366256763 |
465 | P>L | No |
ClinGen TOPMed |
|
|
rs1211444558 CA366256754 |
466 | M>R | No |
ClinGen TOPMed |
|
|
CA4071111 rs115459512 |
466 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366256728 rs1489360796 |
468 | R>K | No |
ClinGen gnomAD |
|
|
rs141514825 CA4071074 |
470 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs945178873 CA150916621 |
471 | I>L | No |
ClinGen gnomAD |
|
|
CA4071073 rs753855066 |
471 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA366256332 rs760782800 |
472 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4071071 rs760782800 |
472 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562432974 CA366256323 |
472 | A>V | No |
ClinGen Ensembl |
|
|
CA4071070 rs771953210 |
474 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366256276 rs1418782765 |
475 | S>N | No |
ClinGen gnomAD |
|
|
rs1238736896 CA366256238 |
477 | E>A | No |
ClinGen gnomAD |
|
|
rs768699095 CA4071066 |
477 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 482 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448155124 CA366256155 |
483 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 483 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148224944 CA150916556 |
484 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA366256134 rs1583559426 |
484 | A>V | No |
ClinGen Ensembl |
|
|
rs779401825 CA4071064 |
485 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4071062 rs745462240 |
491 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1784284453 RCV001268274 |
497 | H>missing | No |
ClinVar dbSNP |
|
|
rs75030376 CA150915259 |
503 | L>F | No |
ClinGen TOPMed |
|
|
rs75030376 CA366255293 |
503 | L>I | No |
ClinGen TOPMed |
|
|
rs34650215 CA150915232 |
504 | V>A | No |
ClinGen Ensembl |
|
|
rs1265977708 CA366255276 |
505 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767916436 CA4071028 |
509 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA150915192 rs950260896 |
511 | A>D | No |
ClinGen Ensembl |
|
|
rs201367107 CA4071025 |
513 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 516 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366255171 rs1330755233 |
517 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366255162 rs1321617372 |
518 | S>R | No |
ClinGen gnomAD |
|
|
CA150915141 rs772764368 |
521 | I>T | No |
ClinGen Ensembl |
|
|
CA4071022 rs376858726 |
522 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1215053395 CA366255132 |
523 | N>S | No |
ClinGen TOPMed |
|
|
CA366255126 rs1275094831 |
524 | T>A | No |
ClinGen TOPMed |
|
|
CA4071021 rs759029732 |
530 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000424539 CA16605066 rs1057524000 |
531 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA150915080 rs925991264 |
534 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4071019 rs770615349 |
535 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774725039 CA4071017 |
538 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768835421 CA4071016 |
538 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366255017 rs1198559961 |
541 | E>* | No |
ClinGen gnomAD |
|
|
rs749813981 CA4071015 |
543 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17849527 VAR_030342 CA150915033 |
543 | S>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs780482026 CA4071014 |
544 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA366254977 rs1412209625 |
547 | R>C | No |
ClinGen TOPMed |
|
|
rs781401323 CA4071011 |
548 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1331741437 CA366254971 |
548 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA366254964 rs1216795197 |
549 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 549 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366254956 rs1297861569 |
550 | L>H | No |
ClinGen TOPMed |
|
|
CA4071009 rs369165154 |
553 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366254935 rs1410354740 |
553 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366254929 rs1478840963 |
554 | L>F | No |
ClinGen gnomAD |
|
|
CA4071007 rs149034301 |
554 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA150914913 rs866268431 |
555 | E>* | No |
ClinGen Ensembl |
|
|
rs1245168537 CA366254917 |
556 | V>D | No |
ClinGen TOPMed |
|
|
rs758075579 CA4071006 |
557 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752526638 CA4071005 |
557 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs564762304 CA4071004 |
560 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA150913130 rs375742426 |
562 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA366254504 rs1224640360 |
564 | P>H | No |
ClinGen TOPMed |
|
|
CA4070950 rs777881946 |
565 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs184558799 CA4070949 |
566 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4070948 rs776978132 |
567 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4070947 rs748359941 |
568 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA366254457 rs1435173111 |
569 | L>R | No |
ClinGen gnomAD |
|
|
CA366254451 rs1211590276 |
570 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA366254441 rs1274169488 |
571 | D>H | No |
ClinGen TOPMed |
|
|
rs766636665 CA366254428 |
572 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA150913024 rs766636665 |
572 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA366254404 rs1326086151 |
574 | L>V | No |
ClinGen gnomAD |
|
|
rs1400027559 CA366254391 |
575 | E>A | No |
ClinGen gnomAD |
|
|
CA366254357 rs1268234019 |
578 | K>E | No |
ClinGen TOPMed |
|
|
CA150913021 rs371759559 |
579 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4070945 rs371759559 |
579 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000998732 rs1583555500 |
581 | N>missing | No |
ClinVar dbSNP |
|
|
CA366254316 rs1201129726 |
581 | N>T | No |
ClinGen TOPMed |
|
|
CA150913015 rs966463020 |
582 | F>I | No |
ClinGen TOPMed |
|
|
rs140454183 CA4070943 |
586 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA150912971 rs991826923 |
591 | L>Q | No |
ClinGen TOPMed |
|
|
CA4070939 rs533582617 |
595 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533582617 CA150912954 |
595 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761405046 CA4070938 |
596 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1033568259 CA366254080 |
603 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1033568259 CA150912932 |
603 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765711096 CA4070936 |
605 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278596506 CA366254065 |
605 | P>S | No |
ClinGen gnomAD |
|
|
rs367951518 CA4070935 |
607 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4070933 rs767035251 |
608 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4070931 rs761224736 |
609 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467480058 CA366254038 |
610 | D>N | No |
ClinGen gnomAD |
|
|
rs1376764852 CA366253992 |
615 | D>H | No |
ClinGen gnomAD |
|
|
rs1376764852 CA366253991 |
615 | D>N | No |
ClinGen gnomAD |
|
|
rs780572089 CA4070918 |
616 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449720095 CA366253973 |
618 | P>T | No |
ClinGen gnomAD |
|
|
rs756734323 CA4070917 |
619 | V>G | No |
ClinGen ExAC |
|
|
CA4070916 rs751022622 |
620 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs80342743 CA150910922 |
624 | L>F | No |
ClinGen ESP ExAC |
|
|
rs200957270 CA4070914 |
626 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4070913 rs754306187 |
627 | C>R | No |
ClinGen ExAC |
|
| TCGA novel | 628 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174295989 CA366253856 |
634 | A>G | No |
ClinGen gnomAD |
|
|
rs767893233 CA4070909 |
638 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4070908 rs762019418 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4070907 rs575982148 |
639 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1250894154 CA366253822 |
640 | T>P | No |
ClinGen gnomAD |
|
|
CA366253808 rs1181085006 |
642 | Q>E | No |
ClinGen gnomAD |
|
|
rs370788378 CA150910841 |
644 | I>F | No |
ClinGen ESP |
|
|
CA150910839 rs370788378 |
644 | I>L | No |
ClinGen ESP |
|
|
CA4070906 rs114624250 |
645 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4070905 rs775296113 |
645 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366253785 rs775296113 |
645 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4070904 rs769568348 |
649 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1201760766 CA366253755 |
650 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779005858 CA4070902 |
655 | N>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96JX3
No regional properties for Q96JX3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96JX3 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| integral component of membrane | The component of a 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. |
| mitochondria-associated endoplasmic reticulum membrane | A zone of apposition between endoplasmic-reticulum and mitochondrial membranes, structured by bridging complexes. These contact sites are thought to facilitate inter-organelle calcium and phospholipid exchange. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| intracellular cholesterol transport | The directed movement of cholesterol, cholest-5-en-3-beta-ol, within cells. |
| phosphatidylglycerol acyl-chain remodeling | Remodeling the acyl chains of phosphatidylglycerol, through sequential deacylation and re-acylation reactions, to generate phosphatidylglycerol containing different types of fatty acid acyl chains. |
| phospholipid biosynthetic process | The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLAAYCVIC | CRRIGTSTSP | PKSGTHWRDI | RNIIKFTGSL | ILGGSLFLTY | EVLALKKAVT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDTQVVEREK | MKSYIYVHTV | SLDKGENHGI | AWQARKELHK | AVRKVLATSA | KILRNPFADP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FSTVDIEDHE | CAVWLLLRKS | KSDDKTTRLE | AVREMSETHH | WHDYQYRIIA | QACDPKTLIG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LARSEESDLR | FFLLPPPLPS | LKEDSSTEEE | LRQLLASLPQ | TELDECIQYF | TSLALSESSQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLAAQKGGLW | CFGGNGLPYA | ESFGEVPSAT | VEMFCLEAIV | KHSEISTHCD | KIEANGGLQL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LQRLYRLHKD | CPKVQRNIMR | VIGNMALNEH | LHSSIVRSGW | VSIMAEAMKS | PHIMESSHAA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RILANLDRET | VQEKYQDGVY | VLHPQYRTSQ | PIKADVLFIH | GLMGAAFKTW | RQQDSEQAVI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EKPMEDEDRY | TTCWPKTWLA | KDCPALRIIS | VEYDTSLSDW | RARCPMERKS | IAFRSNELLR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KLRAAGVGDR | PVVWISHSMG | GLLVKKMLLE | ASTKPEMSTV | INNTRGIIFY | SVPHHGSRLA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EYSVNIRYLL | FPSLEVKELS | KDSPALKTLQ | DDFLEFAKDK | NFQVLNFVET | LPTYIGSMIK |
| 610 | 620 | 630 | 640 | 650 | |
| LHVVPVESAD | LGIGDLIPVD | VNHLNICKPK | KKDAFLYQRT | LQFIREALAK | DLEN |