Q6PI26
PR
Gene name |
SHQ1 |
Protein name |
Protein SHQ1 homolog |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55164 |
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
4 structures for Q6PI26
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2MNW | NMR | - | A | 1-96 | PDB |
| 4PBD | X-ray | 168 A | A | 1-96 | PDB |
| 4PCK | X-ray | 240 A | A/B | 1-96 | PDB |
| AF-Q6PI26-F1 | Predicted | AlphaFoldDB |
502 variants for Q6PI26
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs143636968 VAR_087400 CA2492574 |
175 | D>Y | DYT35; results in decreased H/ACA small nucleolar ribonucleoproteins production when expressed in a heterologous system [UniProt] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
CA353566973 VAR_087401 rs1420754646 |
292 | E>K | NEDDS; results in decreased H/ACA small nucleolar ribonucleoproteins production when expressed in a heterologous system [UniProt] | Yes |
ClinGen gnomAD UniProt |
|
rs746829352 CA2492412 VAR_087402 COSM1048386 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium NEDDS; unknown pathological significance [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD UniProt |
| VAR_087403 | 426 | A>V | NEDDS; unknown pathological significance [UniProt] | Yes | UniProt |
| TCGA novel | 3 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA76526297 rs151104883 |
4 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA76526296 rs148558652 |
5 | A>S | No |
ClinGen ESP TOPMed |
|
|
rs750706900 CA2492812 |
7 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2492810 rs79534835 RCV000956115 |
9 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA353497751 rs1486058599 |
9 | S>I | No |
ClinGen TOPMed |
|
|
rs752049180 CA2492809 |
9 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA353497765 rs79534835 |
9 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353497736 rs534478546 |
10 | Q>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA76526282 rs534478546 |
10 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2492808 rs764600930 |
10 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA353497694 CA2492806 RCV000882275 rs146220182 |
11 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA76526273 rs777314953 |
11 | D>G | No |
ClinGen Ensembl |
|
|
rs759093041 CA353497680 |
12 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259056268 CA353497670 |
12 | P>L | No |
ClinGen gnomAD |
|
|
rs759093041 COSM233357 CA2492804 |
12 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759093041 CA2492805 |
12 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930452431 CA76526252 |
13 | D>A | No |
ClinGen TOPMed |
|
|
CA2492800 rs769998067 |
13 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492801 rs769998067 |
13 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332102668 CA353497566 |
16 | T>I | No |
ClinGen TOPMed |
|
|
rs370356524 CA76526214 |
17 | I>T | No |
ClinGen ESP |
|
|
CA2492796 rs138548447 |
17 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1238198359 CA353497503 |
20 | R>C | No |
ClinGen TOPMed |
|
|
rs754842146 CA2492794 |
21 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs746071824 CA2492793 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2492792 rs781534489 |
23 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs375722695 CA353497415 |
24 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375722695 CA2492790 |
24 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396485911 CA353497421 |
24 | A>S | No |
ClinGen gnomAD |
|
|
rs375722695 CA2492791 |
24 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758930353 CA2492788 |
25 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2492787 rs551809475 |
25 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353497393 rs148030588 |
27 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2492786 rs148030588 |
27 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200718937 CA2492785 |
28 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2492784 rs753370452 |
28 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs760221165 CA2492782 |
30 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA76526138 rs1034820946 |
30 | D>Y | No |
ClinGen TOPMed |
|
|
CA2492781 rs772867831 |
31 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170340952 CA353497324 |
32 | Y>C | No |
ClinGen TOPMed |
|
|
rs372394572 CA2492780 CA353497296 |
33 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353497311 rs1401383230 |
33 | F>L | No |
ClinGen TOPMed |
|
|
rs1445794495 CA353497290 |
34 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 34 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2492778 rs761809869 |
37 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377108428 CA353497243 |
37 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2492777 rs768322266 CA2492776 |
38 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492775 rs755038200 |
39 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781204286 CA2492774 |
40 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196818301 CA353497192 |
40 | F>S | No |
ClinGen TOPMed |
|
|
rs1343398558 CA353497172 |
41 | Y>F | No |
ClinGen gnomAD |
|
|
CA76526069 rs755539665 |
43 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492769 rs753143764 |
45 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs758516487 CA2492770 |
45 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492768 rs779534867 |
47 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA353496700 rs762060684 |
48 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218630374 CA353497068 |
48 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774503089 CA2492704 |
49 | L>S | No |
ClinGen ExAC |
|
|
CA353496697 rs1203366864 |
49 | L>V | No |
ClinGen gnomAD |
|
|
rs1414041588 CA353496687 |
50 | T>I | No |
ClinGen TOPMed |
|
|
rs768765490 CA2492702 |
51 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1241126549 CA353496669 |
54 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749392613 CA2492701 |
54 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749392613 CA353496667 |
54 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492700 rs776072161 |
55 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1439082018 CA353496657 |
56 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770455363 CA2492699 |
57 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318215376 CA353496639 |
58 | N>I | No |
ClinGen gnomAD |
|
|
rs1318215376 CA353496641 |
58 | N>T | No |
ClinGen gnomAD |
|
|
CA353496626 rs1381088778 |
60 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746186754 CA2492698 |
61 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2492697 rs571359083 |
62 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353496606 rs1272787294 |
63 | G>E | No |
ClinGen TOPMed |
|
|
rs147891764 CA353496608 CA2492696 |
63 | G>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2492694 rs777350271 |
65 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM480566 rs947474362 CA76522773 |
65 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA76522772 rs902218830 |
66 | D>G | No |
ClinGen TOPMed |
|
|
CA2492673 rs78491606 |
72 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753799116 CA2492672 |
73 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2492671 rs139428002 |
74 | I>F | No |
ClinGen ESP ExAC |
|
|
rs755870786 CA2492670 |
75 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492669 rs529764235 |
75 | R>H | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374678443 CA2492668 |
78 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1205557784 CA353568772 |
80 | T>A | No |
ClinGen TOPMed |
|
|
rs201278619 CA2492666 |
80 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2492667 rs201278619 |
80 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2492665 rs765405153 |
81 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759749857 CA2492664 |
81 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs765405153 CA353568767 |
81 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353568761 rs1173444435 |
82 | G>A | No |
ClinGen gnomAD |
|
|
rs1179972764 CA910150525 |
85 | F>* | No |
ClinGen TOPMed |
|
|
rs1439752561 CA353568741 |
85 | F>L | No |
ClinGen TOPMed |
|
|
CA353568716 rs1326555498 |
88 | L>R | No |
ClinGen gnomAD |
|
|
rs761065004 CA2492661 |
90 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2492660 rs773422943 |
91 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2492659 rs772462338 |
93 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492658 rs747791672 |
94 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA77314592 rs202214420 |
95 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1411649413 CA353568672 |
96 | A>T | No |
ClinGen gnomAD |
|
|
rs774045145 CA2492657 |
97 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353568646 rs1559701857 |
100 | S>P | No |
ClinGen Ensembl |
|
|
rs1232543047 CA353568641 |
101 | R>G | No |
ClinGen gnomAD |
|
|
CA77314591 rs200242806 |
101 | R>S | No |
ClinGen 1000Genomes |
|
|
rs768095698 CA2492656 |
102 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353568628 rs1168807076 |
103 | A>G | No |
ClinGen TOPMed |
|
|
CA353568630 rs529476695 |
103 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2492655 rs529476695 |
103 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780001102 CA2492654 |
104 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2492653 rs756027998 |
105 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492650 rs757186197 |
106 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2492651 rs781104733 |
106 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1349397292 CA353568608 |
107 | V>L | No |
ClinGen gnomAD |
|
|
CA2492649 rs752956818 |
108 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA353568594 rs1327852988 |
109 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2492630 rs141689155 |
111 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779240905 CA2492629 |
112 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs754126999 CA2492627 |
120 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2492625 rs200756921 |
122 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353568498 rs200756921 |
122 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768014308 CA2492623 |
128 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774719132 CA353568443 |
129 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492621 rs774719132 |
129 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA77314470 rs996043542 |
130 | E>K | No |
ClinGen TOPMed |
|
|
rs764490913 CA2492620 |
132 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000972708 rs61734040 CA2492617 |
134 | C>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2492616 rs759100998 |
136 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771027406 CA2492614 |
137 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2492615 rs776646031 |
137 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1009568174 CA77314469 |
138 | S>* | No |
ClinGen Ensembl |
|
|
CA77314468 rs1037560190 |
139 | E>G | No |
ClinGen TOPMed |
|
|
rs17855677 CA77314467 VAR_034962 |
140 | S>I | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs17855677 CA2492610 |
140 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs17855677 CA353568371 |
140 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs200131095 CA77314466 |
143 | N>S | No |
ClinGen 1000Genomes |
|
|
CA2492609 rs200658486 |
144 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 146 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353568325 rs1475996313 |
147 | H>Y | No |
ClinGen TOPMed |
|
|
rs780333535 CA2492607 |
148 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2492606 rs756078878 |
149 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs750531373 CA2492605 |
153 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1367420617 CA353568281 |
153 | L>F | No |
ClinGen TOPMed |
|
|
CA2492604 rs199551642 |
154 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199551642 CA2492603 |
154 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752101890 CA2492602 |
154 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752101890 CA353568279 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353568271 rs1313298181 |
156 | G>R | No |
ClinGen TOPMed |
|
|
rs755200026 CA77314463 |
156 | G>V | No |
ClinGen TOPMed |
|
|
rs763434951 CA2492601 |
157 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs763434951 CA2492600 |
157 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1477843710 CA353568266 |
157 | V>M | No |
ClinGen gnomAD |
|
|
CA77314462 rs936760285 |
159 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs936760285 CA353568255 |
159 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758931723 CA353568247 |
160 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2492597 rs758931723 |
160 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764950055 CA2492598 |
160 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776307449 CA2492596 |
162 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448080059 CA353568214 |
163 | D>G | No |
ClinGen gnomAD |
|
|
rs1390677763 CA353568202 |
165 | L>M | No |
ClinGen gnomAD |
|
|
rs755929095 CA2492584 |
165 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758629822 CA2492582 |
167 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2492581 rs753125572 |
168 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA353568174 rs1381866990 |
169 | I>T | No |
ClinGen gnomAD |
|
|
CA2492579 RCV000974507 rs78864416 |
169 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA353568169 rs1179058325 |
170 | D>G | No |
ClinGen gnomAD |
|
|
CA353568156 rs1304933058 |
172 | K>E | No |
ClinGen TOPMed |
|
|
rs760270276 CA2492575 |
173 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353568124 rs1575732178 |
176 | F>S | No |
ClinGen Ensembl |
|
|
rs1575732166 CA353568121 |
177 | T>P | No |
ClinGen Ensembl |
|
|
rs1341303243 CA353568113 |
178 | P>L | No |
ClinGen TOPMed |
|
|
rs767515661 CA2492573 |
178 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA77313349 rs761606893 |
179 | A>V | No |
ClinGen Ensembl |
|
|
rs1311860034 CA353568100 |
180 | A>V | No |
ClinGen gnomAD |
|
|
rs1040831506 CA77313348 |
182 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs774166433 CA2492571 |
182 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs774166433 CA353568089 |
182 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768385571 CA2492570 |
186 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs746076879 CA2492569 |
186 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492567 rs200631457 |
189 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353568040 rs1294668941 |
190 | E>A | No |
ClinGen TOPMed |
|
|
rs200696295 CA2492565 |
191 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA77313346 rs200696295 |
191 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353568027 rs1158927042 |
193 | K>E | No |
ClinGen gnomAD |
|
|
rs369544391 CA2492564 |
193 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353568010 rs1200897509 |
195 | D>A | No |
ClinGen gnomAD |
|
|
CA2492562 rs779310599 |
196 | P>H | No |
ClinGen ExAC |
|
|
CA2492563 rs748639197 |
196 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216022898 CA353567999 |
197 | D>G | No |
ClinGen gnomAD |
|
|
CA2492560 rs753477776 |
197 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2492561 rs753477776 |
197 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA353567995 rs1487401013 |
198 | H>D | No |
ClinGen gnomAD |
|
|
rs376919278 CA2492559 |
199 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353567986 rs1575732029 |
199 | Y>H | No |
ClinGen Ensembl |
|
|
rs375764192 CA2492544 |
203 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2492543 rs755339401 |
206 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492541 rs779814791 |
208 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492540 rs755799071 |
208 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145841189 CA2492538 |
209 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756784262 CA2492537 |
212 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA77312457 rs974302498 |
213 | L>F | No |
ClinGen Ensembl |
|
|
CA2492536 rs751445653 |
214 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2492534 rs141348498 |
215 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2492535 rs141348498 |
215 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752517147 CA2492533 |
216 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472566357 CA353567850 |
217 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1472566357 CA353567852 |
217 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353567846 rs1325639310 |
218 | W>R | No |
ClinGen TOPMed |
|
|
rs1235922990 CA353567823 |
220 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353567821 rs1189928467 |
221 | D>N | No |
ClinGen gnomAD |
|
|
rs765053835 CA77312455 CA2492532 |
224 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA77312454 rs765053835 |
224 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353567794 rs1197235374 |
225 | K>E | No |
ClinGen gnomAD |
|
|
CA2492531 rs760925104 |
226 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2492530 rs143254341 |
227 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772128613 CA2492529 |
228 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353567751 rs368699997 |
231 | E>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2492528 rs368699997 |
231 | E>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1285556409 CA353567744 |
232 | K>E | Variant assessed as Somatic; 9.25e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353567735 rs1207403318 |
233 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1448383185 CA353567731 |
233 | S>I | No |
ClinGen gnomAD |
|
|
rs1375855561 CA353567716 |
235 | E>G | No |
ClinGen gnomAD |
|
|
rs1260154534 CA353567709 |
236 | Q>P | No |
ClinGen TOPMed |
|
|
CA353567708 rs1260154534 |
236 | Q>R | No |
ClinGen TOPMed |
|
|
CA77312452 rs928268027 |
237 | E>G | No |
ClinGen TOPMed |
|
|
rs184124290 CA2492526 |
239 | H>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs750605173 CA2492510 |
243 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs775686187 CA77312451 |
243 | V>M | No |
ClinGen TOPMed |
|
|
rs774542860 CA2492507 |
246 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs763540975 CA2492505 |
247 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA353567550 rs1402024550 |
248 | E>G | No |
ClinGen TOPMed |
|
|
CA2492504 rs776205591 |
248 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746231210 CA2492502 |
249 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs770129546 CA2492503 |
249 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492501 rs780846560 |
250 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2492500 rs770519493 |
250 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA353567499 rs1218425097 |
251 | Y>* | No |
ClinGen gnomAD |
|
|
CA2492498 rs746701049 |
252 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2492497 rs777239706 COSM1567138 |
254 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1048388 rs757958098 CA2492496 |
254 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748068509 CA2492495 |
255 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1245747495 CA353567439 |
256 | F>L | No |
ClinGen TOPMed |
|
|
CA77311669 rs776695043 |
256 | F>S | No |
ClinGen TOPMed |
|
|
CA2492494 rs374954561 |
258 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1287167457 CA353567414 |
259 | K>Q | No |
ClinGen TOPMed |
|
|
rs1050979890 CA77311668 |
261 | Y>F | No |
ClinGen Ensembl |
|
|
CA2492492 rs753610044 |
262 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA353567361 rs202201562 |
263 | L>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2492491 rs766238616 |
263 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181656535 CA2492489 |
264 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs181656535 CA2492490 |
264 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM164322 rs1483257759 CA353567321 |
266 | R>T | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2492487 rs763130156 |
267 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2492486 rs776082110 |
268 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA353567293 rs1477210163 |
268 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1477210163 CA353567295 |
268 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA353567287 rs1195327191 |
269 | R>C | No |
ClinGen gnomAD |
|
|
COSM297834 CA2492485 rs375075276 |
269 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs532745159 CA2492484 |
272 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2492483 rs776828808 |
273 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA77311666 rs200383539 |
273 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs1263643055 CA353567186 |
276 | I>T | No |
ClinGen gnomAD |
|
|
CA77311664 rs1053096199 |
281 | A>P | No |
ClinGen Ensembl |
|
|
rs568553350 CA2492480 |
281 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353567076 rs1559686922 |
284 | Y>C | No |
ClinGen Ensembl |
|
|
CA2492478 rs771500083 |
284 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1421757161 CA353567066 |
285 | E>K | No |
ClinGen TOPMed |
|
|
CA2492477 rs747683290 |
287 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778872457 COSM584573 CA2492476 |
287 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778872457 CA353567029 |
287 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353567026 rs1344812515 |
288 | V>L | No |
ClinGen TOPMed |
|
|
CA353566977 rs1465577664 |
291 | G>A | No |
ClinGen gnomAD |
|
|
rs1172236308 CA353566961 |
292 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1210245337 CA353566946 |
293 | K>N | No |
ClinGen gnomAD |
|
|
rs1264956627 CA353566431 |
298 | A>S | No |
ClinGen gnomAD |
|
|
CA2492449 rs778841442 |
301 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055433234 CA353566382 |
301 | I>M | No |
ClinGen gnomAD |
|
|
rs778841442 CA353566390 |
301 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353566368 rs1239846026 |
303 | K>Q | No |
ClinGen gnomAD |
|
|
rs1277072686 CA353566308 |
307 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353566301 rs1165915357 |
307 | T>I | No |
ClinGen TOPMed |
|
|
rs766919140 CA2492446 |
309 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA2492445 rs760991055 |
310 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302331527 CA353566251 |
311 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA353566230 rs750759655 |
312 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492425 rs767865058 |
313 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1481455441 CA353565962 |
315 | T>A | No |
ClinGen gnomAD |
|
|
CA353565960 rs1199236274 |
315 | T>N | No |
ClinGen gnomAD |
|
|
rs762245742 CA2492424 |
316 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377656675 CA77311166 CA353565952 |
316 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353565951 rs1334427178 |
317 | V>I | No |
ClinGen TOPMed |
|
|
rs1265051159 CA353565941 |
318 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353565933 rs1487433601 |
319 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 319 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353565927 rs1559684208 |
320 | I>L | No |
ClinGen Ensembl |
|
|
rs763830634 CA2492421 |
320 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs369540325 CA77311165 |
321 | M>L | No |
ClinGen Ensembl |
|
|
CA353565915 rs957910250 |
322 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA77311164 rs957910250 |
322 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1457951309 CA353565910 |
323 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2492419 rs200831158 |
324 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1225954436 CA353565886 |
326 | R>S | No |
ClinGen gnomAD |
|
|
rs775034259 CA2492418 |
327 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs769475757 CA2492417 |
327 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1256820771 CA353565876 |
328 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1256820771 CA353565874 |
328 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1278934430 CA353565863 |
330 | C>Y | No |
ClinGen TOPMed |
|
|
rs767043133 CA2492416 |
331 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs759531964 CA353565844 |
333 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492415 rs759531964 |
333 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770780336 CA2492413 |
334 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492414 rs776774081 |
334 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM195785 CA2492411 rs201983708 |
335 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2492409 rs749525383 |
338 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353565810 rs749525383 |
338 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746308606 CA2492406 |
342 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs757515249 COSM143473 CA2492404 |
343 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA77311163 rs756921867 |
344 | Y>C | No |
ClinGen Ensembl |
|
|
rs1462181975 CA353565750 |
347 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353565749 rs1256819786 |
347 | T>S | No |
ClinGen gnomAD |
|
|
rs142487191 CA2492403 |
348 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353565745 rs1216231516 |
348 | I>V | No |
ClinGen gnomAD |
|
|
CA353565736 rs1394900753 |
349 | K>R | No |
ClinGen TOPMed |
|
|
rs758045407 CA2492402 |
350 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372755987 CA353565728 |
350 | I>M | No |
ClinGen TOPMed |
|
|
CA2492401 rs758045407 |
350 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759119943 CA2492398 |
352 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353565673 rs1363925544 |
356 | S>I | No |
ClinGen gnomAD |
|
|
CA2492382 rs752327401 |
357 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA353565643 rs1320378142 |
360 | K>N | No |
ClinGen TOPMed |
|
|
CA2492381 rs764990247 |
361 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175931593 CA353565631 |
362 | L>P | No |
ClinGen gnomAD |
|
|
rs1471442316 CA353565620 |
364 | D>G | No |
ClinGen gnomAD |
|
|
rs754485995 CA2492380 |
367 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754485995 CA353565598 |
367 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197575368 CA353565593 |
368 | I>V | No |
ClinGen gnomAD |
|
|
rs1293451216 CA353565538 |
375 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353565532 rs1352640801 |
376 | Y>C | No |
ClinGen gnomAD |
|
|
CA353565526 rs1256299519 |
377 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2492377 rs577488660 |
378 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767279001 CA2492375 |
379 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761610326 CA2492374 |
380 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754326459 CA77308910 |
382 | Y>C | No |
ClinGen TOPMed |
|
|
rs1291423621 CA353565495 |
382 | Y>H | No |
ClinGen TOPMed |
|
|
CA77308909 rs916882248 |
383 | I>V | No |
ClinGen gnomAD |
|
|
rs187502298 CA2492372 |
385 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2492371 rs759793149 |
386 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA353565461 rs1157411367 |
387 | C>R | No |
ClinGen gnomAD |
|
|
CA2492370 rs776668832 |
388 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA353565407 rs1575697282 |
394 | K>R | No |
ClinGen Ensembl |
|
|
rs761557327 CA2492354 |
395 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA77304146 rs866334289 |
396 | K>I | No |
ClinGen Ensembl |
|
|
CA353567597 rs1157271830 |
400 | A>P | No |
ClinGen Ensembl |
|
|
rs568732212 CA77304145 |
400 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1209661706 CA353567547 |
404 | A>G | No |
ClinGen TOPMed |
|
|
rs1486066559 CA353567554 |
404 | A>T | No |
ClinGen gnomAD |
|
|
CA353567508 rs1236689959 |
407 | E>V | No |
ClinGen gnomAD |
|
|
CA2492352 rs368285822 |
408 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2492353 rs751326299 |
408 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353567483 rs1265028259 |
409 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA353567475 rs1224175056 |
410 | L>R | No |
ClinGen gnomAD |
|
|
rs1307031018 CA353567458 |
412 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1216605289 CA353567432 |
414 | Q>* | No |
ClinGen gnomAD |
|
|
rs1363011480 CA353567421 |
414 | Q>R | No |
ClinGen gnomAD |
|
|
CA77304144 rs1047207087 |
416 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA353567376 rs1451037349 |
418 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 423 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2492350 rs776784108 |
429 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770975903 CA2492349 |
431 | E>Q | No |
ClinGen ExAC |
|
|
CA2492347 rs773715839 |
433 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492346 rs139808175 |
433 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353758747 CA353567180 |
433 | E>G | No |
ClinGen TOPMed |
|
|
CA353567183 rs773715839 |
433 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA77304141 rs200070660 |
441 | S>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA353567004 rs1181545638 |
447 | T>I | No |
ClinGen gnomAD |
|
|
rs1575671773 CA353567001 |
448 | L>F | No |
ClinGen Ensembl |
|
|
rs748702725 COSM3775351 CA2492345 |
450 | S>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs879252738 CA77304138 |
454 | A>E | No |
ClinGen gnomAD |
|
|
rs748886958 CA2492342 |
455 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492341 rs779590242 |
457 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs957267119 CA77304137 |
458 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2492339 rs780795478 |
459 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492338 rs780795478 |
459 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145949848 CA77304136 |
464 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs541767597 CA2492335 |
466 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2492333 COSM1693008 rs374852297 |
469 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1161324600 CA353566793 |
472 | G>V | No |
ClinGen gnomAD |
|
|
rs766528173 CA2492332 |
474 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353566775 rs1385696743 |
475 | S>* | No |
ClinGen gnomAD |
|
|
rs1177867415 CA353566763 |
477 | Q>* | No |
ClinGen gnomAD |
|
|
rs760765627 CA2492331 |
477 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA353566752 rs1327771101 |
478 | D>E | No |
ClinGen TOPMed |
|
|
CA77304134 rs878927218 |
480 | L>F | No |
ClinGen Ensembl |
|
|
rs773130507 CA2492330 |
480 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2492327 rs767180976 |
481 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492328 rs767180976 |
481 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529654910 CA2492326 |
483 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353566717 rs1361970020 |
484 | P>A | No |
ClinGen gnomAD |
|
|
rs775169012 CA2492324 |
485 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA353566706 rs1327703320 |
486 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA353566693 rs1334529549 |
487 | T>I | No |
ClinGen gnomAD |
|
|
CA353566689 rs1269232458 |
488 | V>D | No |
ClinGen TOPMed |
|
|
CA353566690 rs1309843400 |
488 | V>F | No |
ClinGen gnomAD |
|
|
rs35178407 VAR_034963 CA2492323 |
489 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 490 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357355880 CA353566678 |
490 | S>P | No |
ClinGen gnomAD |
|
|
CA353566676 rs1300888445 |
490 | S>Y | No |
ClinGen gnomAD |
|
|
rs745584423 CA2492321 |
493 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756825745 CA2492320 |
494 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756825745 CA2492319 |
494 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353566646 rs1451420182 |
495 | F>C | No |
ClinGen gnomAD |
|
|
CA353566647 rs1157806749 |
495 | F>V | No |
ClinGen gnomAD |
|
|
CA2492318 rs746882596 |
496 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867810225 CA77304132 |
497 | E>K | No |
ClinGen Ensembl |
|
|
CA353566626 rs1419736386 |
498 | E>V | No |
ClinGen gnomAD |
|
|
rs758136189 CA2492316 |
499 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1197460717 CA353566606 |
501 | A>S | No |
ClinGen gnomAD |
|
|
CA353566605 rs1197460717 |
501 | A>T | No |
ClinGen gnomAD |
|
|
CA77304131 rs540952628 |
501 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs576612795 CA2492315 |
504 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353566570 rs1263012698 |
506 | D>E | No |
ClinGen gnomAD |
|
|
CA2492314 COSM3824608 rs187307658 |
506 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2492313 rs142643189 |
507 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1240457548 CA353566566 |
507 | G>S | No |
ClinGen gnomAD |
|
|
CA353566558 rs1372736500 |
508 | G>V | No |
ClinGen TOPMed |
|
|
CA2492312 rs145150877 |
510 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762002222 CA2492310 |
510 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762002222 CA2492311 |
510 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353566543 rs1345725803 |
511 | R>S | No |
ClinGen gnomAD |
|
|
rs1317252659 CA353566537 |
512 | N>S | No |
ClinGen gnomAD |
|
|
CA2492308 rs764730435 |
513 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2492307 rs763555835 |
513 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492305 rs146640333 |
515 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353566520 rs148052798 |
515 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148052798 CA2492306 |
515 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA77304130 rs760032178 |
516 | Q>E | No |
ClinGen Ensembl |
|
|
CA2492304 rs745500197 |
517 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA353566499 rs1359641704 |
518 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2492303 rs776269825 |
519 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs370348133 CA2492302 |
520 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777643773 CA2492300 |
523 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2492298 rs535808421 |
525 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA77304128 rs887382873 |
526 | L>F | No |
ClinGen TOPMed |
|
|
rs545967919 CA2492296 |
527 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA77304127 rs545967919 |
527 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA77304126 rs1047731047 |
527 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750557399 CA2492294 |
528 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353566395 rs1269217519 |
528 | S>P | No |
ClinGen gnomAD |
|
|
rs1296069246 CA353566378 |
529 | S>C | No |
ClinGen gnomAD |
|
|
CA2492291 rs757373339 |
534 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA353566277 rs1167496475 |
538 | L>V | No |
ClinGen gnomAD |
|
|
CA353566267 rs1474551943 |
539 | I>L | No |
ClinGen gnomAD |
|
|
CA353566260 rs1447666875 |
539 | I>M | No |
ClinGen Ensembl |
|
|
CA2492289 rs764319736 |
539 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1474551943 CA353566269 |
539 | I>V | No |
ClinGen gnomAD |
|
|
CA2492287 rs113644493 |
541 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs34031957 CA2492288 RCV000969179 |
541 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765452024 CA2492286 |
542 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2492285 rs759957338 |
543 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353566218 rs1442437763 |
543 | G>R | No |
ClinGen gnomAD |
|
|
rs770596890 CA2492283 |
544 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2492284 rs770596890 |
544 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353566205 rs1190353508 |
545 | Q>E | No |
ClinGen TOPMed |
|
|
CA77304123 rs372665421 |
545 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA353566206 rs1190353508 |
545 | Q>K | No |
ClinGen TOPMed |
|
|
CA77304121 rs765420139 |
549 | T>A | No |
ClinGen Ensembl |
|
|
rs1474759102 CA353566176 |
549 | T>I | No |
ClinGen TOPMed |
|
|
rs772684520 CA2492280 |
551 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA353566161 rs1380390321 |
552 | V>L | No |
ClinGen gnomAD |
|
|
rs1317056753 CA353566142 |
555 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 557 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201769881 CA2492279 |
557 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747970837 CA2492278 |
558 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1398870513 CA353566114 |
559 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1398870513 CA353566115 |
559 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2492277 rs199656163 |
559 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2492276 rs768289731 |
560 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1559656763 CA353566109 |
560 | A>V | No |
ClinGen Ensembl |
|
|
rs1451628334 CA353566106 |
561 | V>I | No |
ClinGen TOPMed |
|
|
CA2492274 rs571050907 |
563 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144498351 CA2492273 |
563 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2492272 rs751889946 |
567 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 569 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353566049 rs1231773250 |
569 | R>T | No |
ClinGen gnomAD |
|
|
rs1289412372 CA353566041 |
570 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353566040 rs1289412372 |
570 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs143610551 CA2492270 |
571 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1285333504 CA353566015 |
574 | T>A | No |
ClinGen TOPMed |
|
|
CA2492269 rs758508152 |
575 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1471566421 CA353566008 |
575 | P>S | No |
ClinGen Ensembl |
|
|
CA353566003 rs1221352417 |
576 | N>D | No |
ClinGen gnomAD |
|
|
CA353566004 rs1221352417 |
576 | N>H | No |
ClinGen gnomAD |
|
|
CA77304120 rs977704791 |
578 | N>C | No |
ClinGen TOPMed |
|
|
rs753086493 CA2492268 |
578 | N>G | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6PI26
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| unfolded protein binding | Binding to an unfolded protein. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| box H/ACA snoRNP assembly | The aggregation, arrangement and bonding together of proteins and a box H/ACA snoRNA to form a box H/ACA small nucleolar ribonucleoprotein (snoRNP) complex. |
| negative regulation of rRNA processing | Any process that stops, prevents, or reduces the frequency, rate or extent of rRNA processing. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of telomerase RNA localization to Cajal body | Any process that activates or increases the frequency, rate or extent of telomerase RNA localization to Cajal body. |
| ribonucleoprotein complex assembly | The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLTPAFDLSQ | DPDFLTIAIR | VPYARVSEFD | VYFEGSDFKF | YAKPYFLRLT | LPGRIVENGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EQGSYDADKG | IFTIRLPKET | PGQHFEGLNM | LTALLAPRKS | RTAKPLVEEI | GASEIPEEVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DDEEFDWEIE | QTPCEEVSES | ALNPQCHYGF | GNLRSGVLQR | LQDELSDVID | IKDPDFTPAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERRQKRLAAE | LAKFDPDHYL | ADFFEDEAIE | QILKYNPWWT | DKYSKMMAFL | EKSQEQENHA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLVSFSEEEK | YQLRKFVNKS | YLLDKRACRQ | VCYSLIDILL | AYCYETRVTE | GEKNVESAWN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IRKLSPTLCW | FETWTNVHDI | MVSFGRRVLC | YPLYRHFKLV | MKAYRDTIKI | LQLGKSAVLK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CLLDIHKIFQ | ENDPAYILND | LYISDYCVWI | QKVKSKKLAA | LAEALKEVSL | TKAQLGLELE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELEAAALLVQ | EEETALKAAH | SVSGQQTLCS | SSEASDSEDS | DSSVSSGNED | SGSDSEQDEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KDSPSETVSS | LQGPFLEESS | AFLIVDGGVR | RNTAIQESDA | SQGKPLASSW | PLGVSGPLIE |
| 550 | 560 | 570 | |||
| ELGEQLKTTV | QVSEPKGTTA | VNRSNIQERD | GCQTPNN |