Q8TC44
PR
Gene name |
POC1B |
Protein name |
POC1 centriolar protein homolog B |
Names |
Pix1, Proteome of centriole protein 1B, WD repeat-containing protein 51B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:282809 |
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 Q8TC44
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TC44-F1 | Predicted | AlphaFoldDB |
407 variants for Q8TC44
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749361904 CA6714599 RCV001309447 RCV002545028 |
47 | F>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753599044 RCV001863223 RCV001526732 |
48 | K>missing | Cone-rod dystrophy 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000143863 rs587777693 VAR_071916 |
67 | Q>missing | Cone-rod dystrophy 20 CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs587777693 VAR_071916 |
67 | Q>del | CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites [UniProt] | Yes |
UniProt dbSNP |
|
RCV001862527 CA6714576 RCV001073969 rs769102771 |
80 | R>* | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857487 CA170703 rs76216585 RCV000143862 VAR_071917 |
106 | R>P | Cone-rod dystrophy 20 CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001347730 CA6714529 rs780961965 RCV002547084 |
131 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001320792 rs147661585 RCV002546079 CA6714526 |
135 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001340542 CA6714493 RCV002546904 rs765823697 |
159 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002554656 CA6714373 rs752644030 RCV001862494 RCV001073315 |
279 | S>P | Inborn genetic diseases Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139226294 RCV002543617 RCV001313118 CA6714331 |
336 | H>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002226761 rs1880707874 RCV001268674 |
445 | T>missing | Cone-rod dystrophy 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386008293 rs777724193 |
2 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715019 rs777724193 |
2 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355731040 CA386008290 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1283303236 CA386008287 |
3 | S>A | No |
ClinGen gnomAD |
|
|
rs1283303236 CA386008288 |
3 | S>P | No |
ClinGen gnomAD |
|
|
CA6715018 rs199806871 |
4 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241202176 rs865863474 |
4 | A>V | No |
ClinGen Ensembl |
|
|
rs1345282782 CA386008278 |
5 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6715017 rs202178815 |
5 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755245425 CA6714995 |
6 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs908769577 CA241201607 |
7 | D>Y | No |
ClinGen TOPMed |
|
|
rs1258226804 CA386008239 |
9 | V>F | No |
ClinGen gnomAD |
|
|
CA386008226 rs1199243944 |
11 | E>G | No |
ClinGen TOPMed |
|
|
rs1200137384 CA386008221 |
12 | R>C | No |
ClinGen gnomAD |
|
|
rs1200137384 CA386008222 |
12 | R>G | No |
ClinGen gnomAD |
|
|
CA6714993 rs780295968 |
16 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758725010 CA6714991 |
18 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750926271 CA6714990 |
18 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1382321569 CA386008169 |
19 | A>G | No |
ClinGen gnomAD |
|
|
rs1343763193 CA386008157 |
21 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs371787212 CA6714988 |
22 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6714985 RCV001342979 rs552148954 |
25 | D>E | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs760330543 CA6714984 |
26 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386008126 rs1179611575 |
26 | L>H | No |
ClinGen gnomAD |
|
|
rs760330543 CA241201527 |
26 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377144493 CA6714982 |
28 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6714983 rs775138712 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1180166914 CA386008111 |
29 | N>Y | No |
ClinGen gnomAD |
|
|
CA241201516 rs868030435 |
30 | G>D | No |
ClinGen Ensembl |
|
|
rs1456154895 CA386008104 |
30 | G>S | No |
ClinGen gnomAD |
|
|
CA241201509 rs907268404 |
31 | K>N | No |
ClinGen Ensembl |
|
|
CA6714980 rs774201978 |
31 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs770960285 CA6714979 |
32 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA385994794 rs1565750105 |
34 | A>V | No |
ClinGen Ensembl |
|
|
rs1457032726 CA385994792 |
35 | T>A | No |
ClinGen TOPMed |
|
|
CA385994777 rs1295724234 |
35 | T>N | No |
ClinGen gnomAD |
|
|
rs908199122 CA241176622 |
36 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761568220 CA6714605 |
39 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs201749664 CA6714604 |
40 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1339745170 CA385994664 |
40 | T>I | No |
ClinGen gnomAD |
|
|
rs141996879 CA6714602 |
42 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
RCV001039103 rs148159549 COSM316540 CA6714601 |
43 | M>V | lung stomach [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA241176591 rs111514387 |
44 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA385994521 rs1592628241 |
45 | W>* | No |
ClinGen Ensembl |
|
|
rs143772586 CA6714600 |
46 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1464233554 CA385994403 |
48 | K>T | No |
ClinGen TOPMed |
|
|
CA385994359 rs1338976126 |
49 | P>S | No |
ClinGen TOPMed |
|
|
CA241176572 rs773630909 |
50 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA385994349 rs1386255340 |
50 | H>N | No |
ClinGen gnomAD |
|
|
rs773630909 CA6714597 |
50 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781632156 CA6714594 |
59 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1484103726 CA385994074 |
60 | K>Q | No |
ClinGen gnomAD |
|
|
CA6714593 rs768855674 RCV001320841 |
60 | K>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA385994025 rs1360350728 |
61 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768323759 CA6714589 |
63 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768323759 CA6714590 |
63 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714591 RCV001303217 rs780505563 |
63 | V>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs139145893 CA6714588 |
65 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141485649 CA385993844 |
66 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6714586 rs141485649 COSM386548 |
66 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385993829 rs1316799407 |
67 | Q>P | No |
ClinGen TOPMed |
|
|
CA6714584 rs760358923 |
71 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs763969344 CA6714585 |
71 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA241176415 rs868335113 |
76 | A>S | No |
ClinGen Ensembl |
|
|
COSM944283 rs538799207 CA6714582 |
76 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs148193637 CA6714579 |
78 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6714580 RCV001343822 rs201096824 |
78 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA385993491 rs148193637 |
78 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776679424 CA6714577 |
79 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs769102771 CA385993454 |
80 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780595461 CA6714574 |
80 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780595461 COSM1663603 CA6714575 |
80 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA241176363 rs749884678 |
81 | D>E | No |
ClinGen Ensembl |
|
|
CA241176361 rs746623292 |
82 | R>G | No |
ClinGen Ensembl |
|
|
CA385993335 rs1194347678 |
83 | T>S | No |
ClinGen TOPMed |
|
|
rs201760623 CA6714572 |
84 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385993291 rs779703981 |
85 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714571 rs779703981 |
85 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385993230 rs1378426700 |
87 | W>* | No |
ClinGen TOPMed |
|
|
CA6714570 rs756669972 |
91 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1869012848 RCV001319282 |
92 | R>T | No |
ClinVar dbSNP |
|
|
CA385992072 rs1386870138 |
93 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385992048 rs747745909 |
94 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs747745909 CA6714548 |
94 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781157914 CA6714546 |
100 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6714545 rs754782293 |
101 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432657843 CA385991926 |
102 | T>A | No |
ClinGen gnomAD |
|
|
rs1391093965 CA385991910 |
104 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385991902 rs1190722472 |
106 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs76216585 CA241172486 |
106 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76216585 CA6714544 RCV001055796 |
106 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6714542 RCV001240919 rs757413601 |
108 | V>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs766202849 CA6714543 |
108 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001351167 rs753857035 CA6714541 |
109 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA385991844 rs1253752447 |
115 | Q>* | No |
ClinGen gnomAD |
|
|
rs760896769 CA385991840 |
115 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6714540 RCV001315216 rs571118434 |
115 | Q>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1225701102 CA385991815 |
119 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1010399976 CA241172442 |
121 | S>A | No |
ClinGen TOPMed |
|
|
CA241172431 rs767897459 RCV001327443 |
123 | D>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
rs767897459 CA6714537 |
123 | D>V | No |
ClinGen ExAC TOPMed |
|
|
CA6714535 rs774983051 |
126 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385991767 rs1382039232 |
127 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385991759 rs769379747 |
128 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000994959 CA6714531 rs769379747 |
128 | V>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6714532 rs769379747 |
128 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs749740287 TCGA novel CA6714533 |
128 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA6714530 rs747835839 |
129 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs754868128 CA6714528 |
131 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1389319172 CA385991725 |
133 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6714527 rs142363256 |
133 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142363256 CA385991724 |
133 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149976035 CA6714525 RCV001246702 |
135 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1001168840 CA241172326 |
138 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6714521 RCV001238580 rs756143769 COSM3376398 |
142 | R>* | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6714520 rs752954312 |
142 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752954312 CA385991639 |
142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385991626 rs1265651782 |
143 | H>R | No |
ClinGen gnomAD |
|
|
CA385991610 rs1302082832 |
144 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs947143409 CA241172268 |
145 | H>P | No |
ClinGen TOPMed |
|
|
rs1051765356 RCV001217939 CA241172280 |
145 | H>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs767717032 CA6714519 |
146 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714518 rs759962945 |
148 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714517 rs774587323 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385991554 rs774587323 |
148 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385991562 rs759962945 |
148 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385991527 rs766712497 |
150 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6714516 rs766712497 |
150 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6714498 rs755173263 |
151 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1351222463 CA385991514 |
151 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA241202595 RCV001312331 rs199977729 |
154 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs763347139 CA6714495 |
155 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766685723 CA6714496 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565739709 CA385998541 |
156 | G>E | No |
ClinGen Ensembl |
|
|
rs1265718264 CA385998452 |
162 | C>G | No |
ClinGen gnomAD |
|
|
RCV001313572 CA241202541 rs867057656 |
163 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA385998408 rs1592609953 |
164 | E>G | No |
ClinGen Ensembl |
|
|
CA6714492 rs368821348 |
165 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465624870 CA385998241 |
172 | D>G | No |
ClinGen gnomAD |
|
|
rs1207360314 CA385998224 |
173 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1350071929 CA385998213 |
173 | T>N | No |
ClinGen gnomAD |
|
|
CA385998203 rs1275471138 |
174 | T>A | No |
ClinGen gnomAD |
|
|
CA241202529 rs910777225 |
175 | N>D | No |
ClinGen TOPMed |
|
|
rs1217693574 CA385998184 |
175 | N>S | No |
ClinGen TOPMed |
|
|
rs776285096 CA6714490 |
177 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385998106 rs1329627287 |
180 | N>H | No |
ClinGen gnomAD |
|
|
rs1191470706 CA385998025 |
184 | D>G | No |
ClinGen TOPMed |
|
|
rs1487940626 CA385998031 |
184 | D>H | No |
ClinGen TOPMed |
|
|
rs1435597219 COSM944278 CA385998005 |
185 | S>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs986798731 CA241202512 |
185 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1456606068 CA385997990 |
186 | V>A | No |
ClinGen gnomAD |
|
|
CA6714488 rs760262938 |
186 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1030504560 CA241202493 |
187 | G>E | No |
ClinGen Ensembl |
|
|
CA6714487 rs775164968 |
187 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385997840 rs1344679961 |
189 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 189 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139916492 CA6714455 |
190 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139916492 CA6714454 |
190 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 190 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343953583 CA385997786 |
191 | F>S | No |
ClinGen gnomAD |
|
|
rs767197083 CA6714453 |
191 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001041745 rs1882904502 |
195 | N>D | No |
ClinVar dbSNP |
|
|
rs1400841267 CA385997670 |
196 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385997662 rs1168859475 |
196 | P>R | No |
ClinGen gnomAD |
|
|
CA385997665 rs1400841267 |
196 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385997640 rs1565739391 |
197 | S>T | No |
ClinGen Ensembl |
|
|
rs774149215 COSM1323025 CA6714451 |
198 | G>A | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774149215 CA241202073 |
198 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs759047892 CA6714452 |
198 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385997593 rs1475289526 |
200 | C>R | No |
ClinGen gnomAD |
|
|
CA6714449 rs199621519 |
200 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6714448 rs773102832 |
203 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA6714447 rs768667922 |
207 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA385997405 rs1206148864 |
208 | Q>P | No |
ClinGen gnomAD |
|
|
rs1001021917 CA241202059 |
210 | V>M | No |
ClinGen Ensembl |
|
|
rs1882901954 RCV001295444 |
211 | K>E | No |
ClinVar dbSNP |
|
|
CA385997319 rs1377859938 |
213 | W>R | No |
ClinGen TOPMed |
|
|
CA385997272 rs1272733079 |
215 | V>I | No |
ClinGen gnomAD |
|
|
CA6714445 rs780205938 |
217 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241202047 rs932994105 |
218 | N>H | No |
ClinGen Ensembl |
|
|
rs368667227 CA6714444 |
218 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241202039 rs1018485992 |
219 | K>T | No |
ClinGen TOPMed |
|
|
CA385997086 rs549861827 |
222 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6714443 rs549861827 |
222 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6714442 RCV001034290 rs145981936 |
225 | Q>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757651938 CA6714441 |
225 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA385996488 rs1248256886 |
229 | G>D | No |
ClinGen gnomAD |
|
|
rs777935288 CA6714421 RCV001230393 |
229 | G>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs143173153 CA6714420 |
230 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385996456 rs1467842563 |
231 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6714419 rs144034808 |
233 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200395672 CA241201492 |
237 | H>R | No |
ClinGen 1000Genomes |
|
|
rs375108937 CA6714418 |
239 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6714417 rs375108937 |
239 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385996247 rs1219460585 |
240 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766003536 CA6714415 |
240 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA241201481 rs1050227364 |
241 | N>D | No |
ClinGen Ensembl |
|
|
CA6714414 rs762804429 |
241 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA385996212 rs548724346 |
242 | Y>C | No |
ClinGen TOPMed |
|
|
rs548724346 CA241201478 |
242 | Y>S | No |
ClinGen TOPMed |
|
|
rs1193855555 CA385996167 |
245 | T>P | No |
ClinGen TOPMed |
|
|
CA6714412 rs760616676 |
246 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385996102 rs1460241420 |
248 | S>L | No |
ClinGen TOPMed |
|
|
rs1011624462 CA241201473 |
249 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs761831640 CA385996026 |
252 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761831640 CA6714411 |
252 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001308400 rs1882844397 |
257 | L>F | No |
ClinVar dbSNP |
|
|
CA6714408 rs759662875 |
260 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453598635 CA385995817 |
263 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1191960132 CA385995829 |
263 | I>V | No |
ClinGen gnomAD |
|
|
CA6714406 rs771270957 |
264 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1882843188 RCV001049011 |
265 | T>A | No |
ClinVar dbSNP |
|
|
CA6714405 rs139904289 |
267 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778224641 CA385995717 |
268 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001207359 rs778224641 CA6714404 |
268 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1260056991 CA385995694 |
269 | H>R | No |
ClinGen gnomAD |
|
|
CA6714403 RCV000914229 rs35118127 |
270 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778407870 CA6714378 |
271 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6714377 rs757133298 |
272 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763912895 CA6714375 |
277 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714374 rs756144303 |
278 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1565737608 CA385995098 |
281 | G>R | No |
ClinGen Ensembl |
|
|
rs138333122 RCV001307846 CA6714372 |
283 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6714369 rs765377188 |
285 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs762031738 CA6714368 |
285 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM695499 rs1351153131 CA385994961 |
286 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs776996401 CA6714367 |
286 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA385994928 rs1395517120 |
287 | S>L | No |
ClinGen gnomAD |
|
|
CA385994909 rs1293842992 |
288 | G>E | No |
ClinGen gnomAD |
|
|
rs902745803 CA241199790 |
289 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747542893 CA6714365 |
290 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775941654 CA6714364 |
291 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1373250880 CA385994793 |
293 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6714349 rs764478624 |
294 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs764478624 CA6714348 |
294 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385994565 rs1465700782 |
297 | W>R | No |
ClinGen gnomAD |
|
|
rs1391259872 CA385994378 |
303 | E>D | No |
ClinGen TOPMed |
|
|
rs776033960 CA6714346 RCV001054301 |
303 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1350008760 CA385994325 |
305 | H>R | No |
ClinGen gnomAD |
|
|
CA6714344 RCV001235168 rs746318136 |
308 | G>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6714345 rs772452624 |
308 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714343 rs773745821 |
312 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs781507579 CA6714342 |
313 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1387021828 CA385994096 |
313 | N>K | No |
ClinGen TOPMed |
|
|
rs1443763779 CA385994075 |
314 | L>P | No |
ClinGen TOPMed |
|
|
rs777547193 CA6714340 |
319 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004141908 CA241199440 |
323 | P>Q | No |
ClinGen Ensembl |
|
|
rs756032468 CA6714339 |
324 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1221401 rs1349115292 CA385993792 |
325 | L>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs902575193 CA241199429 |
325 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747956920 CA6714338 |
326 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1397869145 CA385993732 |
327 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6714336 COSM257767 rs780977321 |
328 | I>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385993510 rs1440266084 |
334 | H>Q | No |
ClinGen gnomAD |
|
|
rs1191637505 CA385993478 |
335 | P>R | No |
ClinGen gnomAD |
|
|
CA385993448 CA385993452 rs1213308998 |
336 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6714330 rs764284170 |
336 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385993432 rs753064627 |
337 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6714329 rs761095033 |
337 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA385993446 rs1268127559 |
337 | E>K | No |
ClinGen TOPMed |
|
|
CA385993405 rs1451157156 |
338 | E>G | No |
ClinGen TOPMed |
|
|
CA6714327 rs767863964 |
338 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1341179797 CA385993373 |
339 | K>N | No |
ClinGen gnomAD |
|
|
CA241199379 rs745626531 |
343 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385993259 rs745626531 |
343 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1233966945 CA385992490 |
345 | I>V | No |
ClinGen TOPMed |
|
|
rs1406117323 CA385992470 |
346 | N>S | No |
ClinGen gnomAD |
|
|
CA6714301 rs769381793 |
347 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs528428025 CA6714300 |
348 | K>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA385992434 rs1454567430 |
349 | L>V | No |
ClinGen gnomAD |
|
|
CA241194678 rs565844372 |
350 | E>V | No |
ClinGen 1000Genomes |
|
|
CA6714299 rs776312438 |
352 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385992388 rs1468022572 |
352 | I>T | No |
ClinGen gnomAD |
|
|
CA6714298 rs768381792 |
353 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217361548 CA385992372 |
353 | D>V | No |
ClinGen gnomAD |
|
|
COSM246689 CA385992378 rs768381792 |
353 | D>Y | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA241194608 rs941942035 |
356 | I>F | No |
ClinGen gnomAD |
|
|
CA385992310 rs1349050899 |
357 | S>F | No |
ClinGen gnomAD |
|
|
CA385992280 rs1175914378 |
360 | P>S | No |
ClinGen TOPMed |
|
|
rs745746898 CA6714292 |
362 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs140241110 CA6714291 |
362 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745746898 CA385992254 |
362 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416474332 CA385992210 |
364 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 365 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385992185 rs1435500112 |
366 | S>F | No |
ClinGen gnomAD |
|
|
CA385992155 rs1364689468 |
368 | D>V | No |
ClinGen gnomAD |
|
|
rs1396676944 CA385992161 |
368 | D>Y | No |
ClinGen gnomAD |
|
|
CA385992139 rs1459358135 |
369 | S>F | No |
ClinGen gnomAD |
|
|
CA6714290 rs756145529 |
371 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs780599840 CA6714241 |
372 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758808269 CA6714240 |
373 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA385986199 rs758808269 |
373 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA6714238 rs765823491 |
375 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756780248 CA6714237 |
380 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379680343 CA385986102 |
381 | P>S | No |
ClinGen TOPMed |
|
|
rs927341585 CA241166329 COSM1195216 |
382 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs112273905 CA241166336 |
382 | D>G | No |
ClinGen Ensembl |
|
|
CA241166315 rs1001973814 |
383 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385986060 rs1291698432 |
383 | K>R | No |
ClinGen gnomAD |
|
|
rs753389405 CA6714236 |
386 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714234 rs760396863 |
388 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1353904291 CA385985974 |
389 | G>R | No |
ClinGen gnomAD |
|
|
rs1449922753 CA385985950 |
390 | Y>* | No |
ClinGen TOPMed |
|
|
CA385985883 rs1165538857 |
394 | P>A | No |
ClinGen gnomAD |
|
|
CA6714233 rs775082580 |
394 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs202077013 CA241166302 |
395 | S>F | No |
ClinGen 1000Genomes |
|
|
rs1321937081 CA385985848 |
396 | L>V | No |
ClinGen TOPMed |
|
|
rs767339093 CA6714232 |
400 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001204578 rs138358967 CA6714231 |
401 | C>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385985706 rs1592575847 |
403 | P>L | No |
ClinGen Ensembl |
|
|
rs188364351 CA241166242 |
404 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA241166233 rs556245269 |
405 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV001312849 CA6714229 rs770860408 |
406 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6714230 rs774341328 |
406 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385985647 rs1337041775 |
407 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6714227 rs776799128 |
410 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001307367 CA6714225 rs747299500 |
413 | M>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs768581613 CA6714226 |
413 | M>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001248455 rs1321325953 CA385985503 |
414 | S>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA6714224 rs535484220 |
416 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385985444 rs1389512125 |
417 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA385985438 rs1389512125 |
417 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385985419 rs1372286030 |
418 | C>S | No |
ClinGen gnomAD |
|
|
rs772620364 CA6714223 |
419 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6714222 rs201071027 |
420 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385985342 rs1391669039 |
421 | Q>P | No |
ClinGen gnomAD |
|
|
rs78205937 CA241166185 |
423 | S>R | No |
ClinGen Ensembl |
|
|
CA6714220 rs757794354 |
424 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6714221 rs779349342 |
424 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365231231 CA385985277 |
425 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1434180325 CA385985251 |
426 | L>P | No |
ClinGen TOPMed |
|
|
CA385985242 COSM431956 rs777371599 |
427 | A>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777371599 CA6714218 |
427 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755545988 CA6714217 |
427 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752406510 CA6714216 |
428 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs553428980 CA6714215 |
429 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539980702 CA6714214 |
430 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6714213 rs751369563 |
431 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA385985155 rs1262742000 |
433 | E>K | No |
ClinGen gnomAD |
|
|
rs762984182 CA6714211 |
434 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303800165 CA385985114 |
435 | I>V | No |
ClinGen gnomAD |
|
|
CA241166118 rs953230607 |
436 | M>V | No |
ClinGen Ensembl |
|
|
CA385985046 rs570958164 |
438 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570958164 CA6714210 |
438 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555215870 CA385985019 RCV000513570 |
439 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768832815 CA6714209 |
441 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs775918835 CA6714207 |
443 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000513161 CA385984915 rs1555215866 |
444 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs759867958 CA6714187 |
448 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385983559 rs1249509988 |
449 | L>F | No |
ClinGen gnomAD |
|
|
rs577867306 CA241162377 |
451 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6714186 rs577867306 |
451 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1355489875 CA385983522 |
451 | Q>P | No |
ClinGen gnomAD |
|
|
rs771374522 CA6714185 |
452 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6714184 rs200082142 |
452 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143659653 CA6714183 |
453 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410876362 CA385983438 |
456 | T>I | No |
ClinGen gnomAD |
|
|
CA385983443 rs1333988178 |
456 | T>S | No |
ClinGen gnomAD |
|
|
CA6714182 rs770218921 |
457 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399310039 CA385983431 |
457 | E>G | No |
ClinGen gnomAD |
|
|
rs748606086 CA6714181 |
458 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780714277 CA6714180 |
459 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1474382264 CA385983357 |
461 | K>N | No |
ClinGen gnomAD |
|
|
rs1402000204 CA385983367 |
461 | K>T | No |
ClinGen TOPMed |
|
|
rs987369573 CA241162326 |
462 | D>A | No |
ClinGen TOPMed |
|
|
rs1237110809 CA385983332 |
463 | C>R | No |
ClinGen gnomAD |
|
|
rs1270821671 CA385983233 |
468 | Q>R | No |
ClinGen gnomAD |
|
|
CA6714174 rs371878470 |
470 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1334927094 CA385983179 |
470 | L>V | No |
ClinGen gnomAD |
|
|
rs1466342702 CA385983137 |
472 | S>G | No |
ClinGen gnomAD |
|
|
rs190372850 CA6714173 |
472 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566746337 CA241162307 |
472 | S>R | No |
ClinGen Ensembl |
|
|
rs190372850 CA385983127 |
472 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765022227 CA6714172 |
473 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs148916260 CA6714170 |
475 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759665142 CA6714168 |
475 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6714167 rs61748629 RCV000909281 |
478 | S>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385982962 rs1446621862 |
478 | S>R | No |
ClinGen gnomAD |
1 associated diseases with Q8TC44
[MIM: 615973]: Cone-rod dystrophy 20 (CORD20)
A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:24945461, ECO:0000269|PubMed:25018096, ECO:0000269|PubMed:25044745}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:24945461, ECO:0000269|PubMed:25018096, ECO:0000269|PubMed:25044745}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for Q8TC44
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 7 - 88 | IPR001680-1 |
| repeat | WD40 repeat | 91 - 298 | IPR001680-2 |
| conserved_site | WD40 repeat, conserved site | 33 - 47 | IPR019775-1 |
| conserved_site | WD40 repeat, conserved site | 201 - 215 | IPR019775-2 |
| repeat | G-protein beta WD-40 repeat | 117 - 131 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 159 - 173 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 201 - 215 | IPR020472-3 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| centriole replication | The cell cycle process in which a daughter centriole is formed perpendicular to an existing centriole. An immature centriole contains a ninefold radially symmetric array of single microtubules; mature centrioles consist of a radial array of nine microtubule triplets, doublets, or singlets depending upon the species and cell type. Duplicated centrioles also become the ciliary basal body in cells that form cilia during G0. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| retina homeostasis | A tissue homeostatic process involved in the maintenance of an internal equilibrium within the retina of the eye, including control of cellular proliferation and death and control of metabolic function. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASATEDPVL | ERYFKGHKAA | ITSLDLSPNG | KQLATASWDT | FLMLWNFKPH | ARAYRYVGHK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DVVTSVQFSP | HGNLLASASR | DRTVRLWIPD | KRGKFSEFKA | HTAPVRSVDF | SADGQFLATA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEDKSIKVWS | MYRQRFLYSL | YRHTHWVRCA | KFSPDGRLIV | SCSEDKTIKI | WDTTNKQCVN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NFSDSVGFAN | FVDFNPSGTC | IASAGSDQTV | KVWDVRVNKL | LQHYQVHSGG | VNCISFHPSG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NYLITASSDG | TLKILDLLEG | RLIYTLQGHT | GPVFTVSFSK | GGELFASGGA | DTQVLLWRTN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FDELHCKGLT | KRNLKRLHFD | SPPHLLDIYP | RTPHPHEEKV | ETVEINPKLE | VIDLQISTPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VMDILSFDST | TTTETSGRTL | PDKGEEACGY | FLNPSLMSPE | CLPTTTKKKT | EDMSDLPCES |
| 430 | 440 | 450 | 460 | 470 | |
| QRSIPLAVTD | ALEHIMEQLN | VLTQTVSILE | QRLTLTEDKL | KDCLENQQKL | FSAVQQKS |