Q9H900
Gene name |
ZWILCH |
Protein name |
Protein zwilch homolog |
Names |
hZwilch |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55055 |
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
3 structures for Q9H900
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3IF8 | X-ray | 255 A | PDB | ||
| 7QPG | EM | 390 A | B/C | 1-591 | PDB |
| AF-Q9H900-F1 | Predicted | AlphaFoldDB |
486 variants for Q9H900
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs748258443 CA7625100 |
2 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs200469112 CA392946978 |
3 | E>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA271659489 rs200469112 |
3 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs147940200 CA392946985 |
4 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147940200 CA392946984 |
4 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA271659499 rs1000289102 |
5 | L>M | No |
ClinGen TOPMed |
|
|
CA392946990 rs1248491175 |
5 | L>P | No |
ClinGen gnomAD |
|
|
rs1000289102 CA271659502 |
5 | L>V | No |
ClinGen TOPMed |
|
|
rs1595898697 CA392946993 |
6 | N>D | No |
ClinGen Ensembl |
|
|
rs749004706 CA7625103 |
6 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA392947005 rs770824598 |
7 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs770824598 CA392947006 |
7 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1430596952 CA392947002 |
7 | C>Y | No |
ClinGen TOPMed |
|
|
CA392947011 rs1567037197 |
8 | A>V | No |
ClinGen Ensembl |
|
|
rs773862299 CA7625105 |
9 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392947022 rs775096510 |
10 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7625106 rs199667793 |
10 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257357493 CA392947019 |
10 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7625107 rs199667793 |
10 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392947027 rs112076842 |
11 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1443495622 CA392947030 |
11 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7625109 rs112076842 |
11 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1480435947 CA392947024 |
11 | D>N | No |
ClinGen TOPMed |
|
|
rs112076842 CA392947028 |
11 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7625110 rs532664071 |
12 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1488345153 CA392947039 |
13 | Y>D | No |
ClinGen TOPMed |
|
|
CA7625111 rs773838464 |
13 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1488345153 CA392947040 |
13 | Y>H | No |
ClinGen TOPMed |
|
|
CA7625113 rs763216070 |
15 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392947058 rs1402728256 |
16 | L>F | No |
ClinGen gnomAD |
|
|
rs1454361865 CA392947059 |
16 | L>H | No |
ClinGen gnomAD |
|
|
rs11551829 CA7625116 RCV000967369 |
17 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1229270492 CA392947069 |
18 | Q>* | No |
ClinGen gnomAD |
|
|
rs756172113 CA7625138 |
19 | K>I | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs764175147 CA392947101 |
20 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs753867134 CA7625141 |
23 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA392947128 rs1345185228 |
24 | K>Q | No |
ClinGen gnomAD |
|
|
CA392947130 rs1454343463 |
24 | K>R | No |
ClinGen gnomAD |
|
|
CA7625142 rs757174315 |
28 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625143 rs201349152 |
28 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757174315 CA271661139 |
28 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457567280 CA392947190 |
33 | L>F | No |
ClinGen gnomAD |
|
|
rs781710931 CA7625144 |
34 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781710931 CA7625145 |
34 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625169 rs150492797 |
36 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770707895 CA271666282 |
36 | A>T | No |
ClinGen Ensembl |
|
|
rs769256442 CA7625170 |
42 | L>M | No |
ClinGen ExAC TOPMed |
|
|
rs779376855 CA392947274 |
43 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392947305 rs1595905134 |
48 | P>T | No |
ClinGen Ensembl |
|
|
CA7625172 rs746314737 |
50 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA271666348 rs79460599 |
56 | N>H | No |
ClinGen TOPMed |
|
|
CA7625173 rs375123343 |
58 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625174 rs560116307 |
59 | D>G | No |
ClinGen 1000Genomes ExAC |
|
|
CA7625175 rs199928523 |
60 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271666385 rs1030115240 |
62 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA392947408 rs1368592053 |
63 | I>L | No |
ClinGen TOPMed |
|
|
CA392947413 rs1595905165 |
63 | I>M | No |
ClinGen Ensembl |
|
|
CA392947418 rs1161005601 |
64 | V>A | No |
ClinGen gnomAD |
|
|
CA7625177 rs545769609 |
65 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761946015 CA7625178 |
66 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765175164 CA7625179 |
67 | V>G | No |
ClinGen ExAC TOPMed |
|
|
CA392947434 rs1231015389 |
67 | V>M | No |
ClinGen gnomAD |
|
|
rs201043795 CA271667146 |
68 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1567041877 CA392947466 |
70 | E>G | No |
ClinGen Ensembl |
|
|
rs763758500 CA7625208 |
71 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7625209 rs753323083 |
72 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA392947481 rs1450075330 |
72 | E>V | No |
ClinGen gnomAD |
|
|
CA7625210 rs138124415 |
73 | E>D | No |
ClinGen ESP ExAC |
|
|
CA392947484 rs1595906194 |
73 | E>K | No |
ClinGen Ensembl |
|
|
CA7625211 rs780533919 |
74 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs747525295 CA7625212 |
75 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1432277934 CA392947500 |
75 | S>I | No |
ClinGen gnomAD |
|
|
rs755514803 CA7625214 |
76 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA7625213 rs755514803 |
76 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7625215 rs748568573 |
80 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748568573 CA392947533 |
80 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA271667181 rs78541569 |
83 | E>K | No |
ClinGen Ensembl |
|
|
CA7625217 rs773612685 |
84 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA271667192 rs78136359 |
85 | T>P | No |
ClinGen Ensembl |
|
|
CA392947570 rs1203346760 |
86 | A>T | No |
ClinGen gnomAD |
|
|
CA392947580 rs1191032059 |
87 | I>T | No |
ClinGen gnomAD |
|
|
CA392947576 rs1448827965 |
87 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481023113 CA392947612 |
92 | T>A | No |
ClinGen gnomAD |
|
|
rs1202200344 CA392947616 |
92 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392947625 rs1385158908 |
94 | E>A | No |
ClinGen gnomAD |
|
|
CA7625221 rs140891720 |
94 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7625223 rs775094191 |
96 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs972007369 CA271667208 |
98 | P>Q | No |
ClinGen Ensembl |
|
|
CA271667210 rs918564740 |
101 | L>F | No |
ClinGen Ensembl |
|
|
CA392947667 rs1203399721 |
101 | L>V | No |
ClinGen gnomAD |
|
|
CA392947673 rs1285108796 |
102 | P>A | No |
ClinGen gnomAD |
|
|
rs1454401251 CA392947687 |
104 | G>E | No |
ClinGen TOPMed |
|
|
CA7625227 rs369115862 |
106 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767909467 CA7625252 |
108 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA392947749 rs1164890927 |
112 | L>F | No |
ClinGen gnomAD |
|
|
rs202072879 CA7625254 |
112 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392947753 rs1308595097 |
113 | Y>H | No |
ClinGen TOPMed |
|
|
rs1308595097 CA392947752 |
113 | Y>N | No |
ClinGen TOPMed |
|
|
rs778218941 CA7625255 |
114 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754283537 CA7625256 |
115 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7625257 rs757502358 |
116 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389452465 CA392947790 |
118 | N>S | No |
ClinGen gnomAD |
|
|
CA392947797 rs1330952547 |
119 | P>H | No |
ClinGen gnomAD |
|
|
rs867984141 CA271668822 |
121 | M>V | No |
ClinGen gnomAD |
|
|
CA7625259 rs745904715 |
122 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625260 rs142081992 |
123 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625261 rs779840465 |
124 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA271668833 rs755971304 |
126 | I>F | No |
ClinGen TOPMed |
|
|
CA7625262 rs746888973 |
128 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA392947861 rs1195522096 |
129 | P>A | No |
ClinGen gnomAD |
|
|
CA7625263 rs768613564 |
130 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs374330243 CA271668842 |
131 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA392947877 rs1595908930 |
132 | A>S | No |
ClinGen Ensembl |
|
|
CA392947880 rs1185027150 |
132 | A>V | No |
ClinGen gnomAD |
|
|
CA392947884 rs1387563715 |
133 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 134 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7625264 rs776362439 |
135 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA392947895 rs1240773017 |
135 | P>S | No |
ClinGen gnomAD |
|
|
CA7625265 rs761646838 |
136 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7625266 rs769299514 |
137 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs772987880 CA7625267 |
138 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA392947918 rs1273284041 |
139 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA392947940 rs1406509853 |
142 | S>R | No |
ClinGen gnomAD |
|
|
CA7625268 rs762359569 |
143 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA392947952 rs1308432173 |
143 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7625269 rs765860207 |
144 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1054728926 CA271668867 |
145 | P>S | No |
ClinGen Ensembl |
|
|
rs751121477 CA7625270 |
146 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA271668877 rs201760221 |
147 | G>D | No |
ClinGen Ensembl |
|
|
CA271668881 rs878946349 |
150 | W>* | No |
ClinGen Ensembl |
|
|
CA392948007 rs1306229541 |
152 | G>A | No |
ClinGen gnomAD |
|
|
rs761221374 CA7625271 |
152 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA271668889 rs1009890095 |
153 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 153 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754228504 CA7625273 |
156 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs757675757 CA7625274 |
158 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7625275 rs150058435 |
158 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315597891 CA392948080 |
163 | T>I | No |
ClinGen TOPMed |
|
|
rs377460492 CA271668899 |
164 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426619239 CA392948105 |
167 | L>F | No |
ClinGen gnomAD |
|
|
rs758560847 CA7625277 |
168 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392948107 rs1376951491 |
168 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7625278 rs139933771 |
172 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392948176 rs1303558329 |
176 | K>E | No |
ClinGen TOPMed |
|
|
COSM1374194 rs749056249 CA7625308 |
176 | K>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 177 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770682122 CA392948193 |
178 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308673130 CA392948189 |
178 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770682122 CA7625309 |
178 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392948190 rs1308673130 |
178 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7625310 rs141331169 |
179 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392948201 rs1490806006 |
180 | V>I | No |
ClinGen gnomAD |
|
|
CA7625311 rs542002882 |
182 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs997421812 CA271670017 |
183 | E>A | No |
ClinGen Ensembl |
|
|
rs1405994563 CA392948315 |
187 | N>I | No |
ClinGen gnomAD |
|
|
rs139005365 CA271670023 |
188 | L>I | No |
ClinGen ESP |
|
|
CA392948344 rs762313169 |
189 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392948347 rs762313169 |
189 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765693494 CA7625315 |
189 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7625314 rs762313169 |
189 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387661743 CA392948355 |
190 | K>E | No |
ClinGen gnomAD |
|
|
CA271670029 rs970947648 |
191 | K>* | No |
ClinGen TOPMed |
|
|
CA392948371 rs970947648 |
191 | K>E | No |
ClinGen TOPMed |
|
|
COSM194152 CA271670034 rs562042882 |
192 | R>I | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
|
CA7625316 rs773605455 |
193 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA392948403 rs773605455 |
193 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1323466852 CA392948425 |
194 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1567044192 CA392948443 |
195 | L>V | No |
ClinGen Ensembl |
|
|
CA7625317 rs763269039 |
196 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147137740 CA7625318 |
197 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392948557 rs1208469584 |
198 | V>L | No |
ClinGen Ensembl |
|
|
CA7625336 rs773660084 |
202 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA392948613 rs771232194 |
203 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs35789979 CA7625337 |
203 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625338 rs771232194 |
203 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1255976721 CA392948618 |
204 | A>P | No |
ClinGen gnomAD |
|
|
rs530554607 CA271670462 |
204 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392948632 rs1399583525 |
206 | Y>H | No |
ClinGen gnomAD |
|
|
rs774706792 CA7625339 |
207 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA392948699 rs1461264742 |
210 | K>E | No |
ClinGen TOPMed |
|
|
rs759717506 CA7625340 |
213 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753738429 CA7625342 |
214 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625343 rs760707213 |
215 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA392948819 rs140389510 |
217 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140389510 CA7625345 |
217 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764084085 CA7625344 |
217 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7625346 rs144338336 |
219 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332883695 CA392948891 |
222 | Q>R | No |
ClinGen gnomAD |
|
|
rs1192703016 CA392948912 |
223 | T>I | No |
ClinGen TOPMed |
|
|
rs750272676 CA7625348 |
224 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276207942 CA392948925 |
224 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373537835 CA7625350 |
226 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392948947 rs373537835 |
226 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373537835 CA7625351 |
226 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA271670518 rs375560885 |
228 | D>H | No |
ClinGen ESP gnomAD |
|
|
rs375560885 CA392948980 |
228 | D>Y | No |
ClinGen ESP gnomAD |
|
|
CA7625352 rs768109565 |
230 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271670520 rs768109565 |
230 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1049852497 CA271670531 |
236 | E>G | No |
ClinGen Ensembl |
|
|
rs1220514236 CA392949132 |
237 | I>V | No |
ClinGen TOPMed |
|
|
CA392949159 rs780768540 |
239 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs780768540 CA7625353 |
239 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1595910561 CA392949186 |
240 | I>T | No |
ClinGen Ensembl |
|
|
rs147926670 CA7625354 |
241 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7625356 rs373567295 |
243 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625358 rs772304279 |
246 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625359 rs775638387 |
247 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7625360 rs760792008 |
248 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625361 rs760792008 |
248 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768953341 CA7625379 |
250 | N>H | No |
ClinGen ExAC |
|
|
CA392950333 rs1329805864 |
252 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776800933 CA7625380 |
254 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7625382 rs765263706 |
256 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360224806 CA392950375 |
258 | P>S | No |
ClinGen gnomAD |
|
|
rs773342931 CA7625383 |
260 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773342931 CA392950386 |
260 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762997367 COSM1189048 CA7625386 |
266 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762997367 CA7625387 |
266 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392950436 rs1458847278 |
267 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7625388 rs374127628 |
268 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
rs1287226102 CA392950453 |
270 | K>E | No |
ClinGen TOPMed |
|
|
rs149603367 CA7625409 |
277 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392950515 rs1447954222 |
277 | D>G | No |
ClinGen TOPMed |
|
|
CA392950520 rs1476713715 |
278 | G>R | No |
ClinGen gnomAD |
|
|
rs976784805 CA271677162 |
279 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7625411 rs151117810 |
281 | T>S | No |
ClinGen ESP ExAC |
|
|
rs1467678616 CA392950547 |
282 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs867421865 CA271677180 |
283 | V>I | No |
ClinGen TOPMed |
|
|
CA392950553 rs1301214002 |
284 | T>P | No |
ClinGen gnomAD |
|
|
rs540165637 CA7625412 |
287 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760330951 CA7625413 |
287 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753376082 CA7625415 |
288 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753376082 CA392950580 |
288 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893791223 CA271677234 |
289 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1211758111 CA392950594 |
290 | L>P | No |
ClinGen gnomAD |
|
|
CA271677243 rs758780844 |
290 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392950600 rs1253787311 |
291 | E>A | No |
ClinGen gnomAD |
|
|
CA392950605 rs1482634396 |
292 | A>P | No |
ClinGen gnomAD |
|
|
CA392950608 rs1205712304 |
292 | A>V | No |
ClinGen gnomAD |
|
|
rs1471776682 CA392950613 |
293 | K>T | No |
ClinGen TOPMed |
|
|
CA7625417 rs780660190 |
295 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs751838837 CA7625418 |
295 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7625419 rs755429665 |
296 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392950628 rs755429665 |
296 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781700715 CA7625420 |
304 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA392950719 rs1456098079 |
307 | N>T | No |
ClinGen TOPMed |
|
|
CA392950740 rs1249016417 |
310 | D>G | No |
ClinGen TOPMed |
|
|
CA7625432 rs760277549 |
310 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1296095809 CA392950758 |
313 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7625433 rs763756621 |
315 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7625434 rs753263940 |
316 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761426640 CA7625436 |
317 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs766790030 CA7625437 |
319 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746390455 | 319 | D>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392950863 rs201666467 |
321 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781656882 CA7625440 |
323 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392951150 rs1424875098 |
325 | L>W | No |
ClinGen gnomAD |
|
|
rs1478970466 CA392951156 |
326 | K>T | No |
ClinGen gnomAD |
|
|
CA271678204 rs898547516 |
327 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 328 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 330 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7625465 rs760072320 |
330 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1397617761 CA392951188 |
331 | A>S | No |
ClinGen gnomAD |
|
|
rs1464677452 CA392951192 |
331 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7625469 rs140914823 |
333 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM470988 CA7625467 rs140914823 |
333 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7625468 rs140914823 |
333 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7625470 rs376275071 |
334 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372540184 CA7625471 |
334 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392951206 rs372540184 |
334 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625473 rs150190821 |
335 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625472 rs150190821 |
335 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392951213 rs780004451 |
336 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3764532 CA7625475 rs780004451 |
336 | V>I | central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7625476 rs138838416 |
337 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA271678240 rs138838416 |
337 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7625478 rs776295095 |
338 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7625479 rs375472609 |
338 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625481 rs772759748 |
341 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200970538 CA271678261 |
343 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200970538 CA7625483 |
343 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625482 rs762594506 |
343 | R>W | No |
ClinGen ExAC gnomAD |
|
|
VAR_038055 CA7625484 rs11071896 |
344 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 349 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271678269 rs991187640 |
350 | E>K | No |
ClinGen TOPMed |
|
|
CA392951307 rs1466398327 |
351 | Q>* | No |
ClinGen TOPMed |
|
|
CA7625487 rs764448800 |
351 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764448800 CA7625486 |
351 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625489 rs765425325 |
354 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA271678304 rs924984482 |
355 | K>Q | No |
ClinGen Ensembl |
|
|
rs935016254 CA271678314 |
356 | M>I | No |
ClinGen Ensembl |
|
|
CA392951341 rs1420986529 |
356 | M>V | No |
ClinGen TOPMed |
|
|
rs750469731 CA7625490 |
357 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750469731 CA7625491 |
357 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625508 rs750702366 |
359 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392951393 rs1379189187 |
362 | S>P | No |
ClinGen gnomAD |
|
|
rs145727647 CA7625511 |
366 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754922653 CA7625512 |
368 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7625513 rs781034081 |
368 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs1179364226 CA392951450 |
369 | C>Y | No |
ClinGen TOPMed |
|
|
rs752534902 CA7625514 |
370 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs138641813 CA7625515 |
371 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750143404 CA271678771 |
372 | L>W | No |
ClinGen Ensembl |
|
|
rs770735224 CA7625519 |
375 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625520 rs778515059 |
379 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7625521 rs781621042 |
379 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392951579 rs778515059 |
379 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs769173962 CA7625523 |
380 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs769173962 CA7625522 |
380 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7625528 rs766638150 |
381 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7625526 rs769995701 |
381 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7625525 rs769995701 |
381 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625527 rs139478630 |
381 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1341548508 CA392951618 |
382 | I>M | No |
ClinGen gnomAD |
|
|
CA7625529 rs377218620 |
382 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392951612 rs1477911009 |
382 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7625532 rs752522290 |
385 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA392952307 rs764172582 |
387 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753652498 CA392952312 |
388 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7625553 rs753652498 |
388 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA392952324 rs1378286043 |
390 | S>G | No |
ClinGen gnomAD |
|
|
rs764969449 CA7625555 |
390 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs559367350 CA7625557 |
392 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1595917669 CA392952352 |
394 | L>I | No |
ClinGen Ensembl |
|
|
rs779383305 CA7625560 |
394 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7625561 rs746579713 |
395 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778321438 CA7625563 |
398 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749642463 CA7625565 |
399 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749642463 CA7625564 |
399 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774786799 CA392952389 |
400 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7625566 rs774786799 |
400 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA392952390 rs1428549222 |
400 | Q>P | No |
ClinGen TOPMed |
|
|
CA271680819 rs760608164 |
401 | S>F | No |
ClinGen Ensembl |
|
|
rs1370483807 CA392952413 |
403 | H>L | No |
ClinGen TOPMed |
|
|
CA392952422 rs1343391890 |
405 | T>P | No |
ClinGen gnomAD |
|
|
rs182841691 CA7625568 |
406 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392952429 rs1278143222 |
406 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435257961 CA392952441 |
407 | D>V | No |
ClinGen TOPMed |
|
|
CA392952445 rs1217215661 |
408 | T>A | No |
ClinGen gnomAD |
|
|
CA7625571 rs764121179 |
412 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA271680828 rs999990031 |
413 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7625572 rs376356151 |
413 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625573 rs199947479 |
415 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392952543 rs1482807396 |
417 | V>I | No |
ClinGen TOPMed |
|
|
CA392952569 rs1420898172 |
418 | Q>H | No |
ClinGen gnomAD |
|
|
rs1024749021 CA271680837 |
419 | M>I | No |
ClinGen TOPMed |
|
|
CA7625574 rs765057462 |
419 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750263110 CA7625575 |
422 | E>* | No |
ClinGen ExAC |
|
|
CA7625576 rs757965380 |
423 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751028896 CA392952658 |
425 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368758542 CA392952647 |
425 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 426 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7625580 rs780697482 |
431 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754280084 CA7625581 |
432 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs754280084 CA392952752 |
432 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs754079572 TCGA novel |
437 | I>H | Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772150723 CA7625586 |
437 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA7625585 rs779094520 CA7625584 |
437 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271680893 rs779094520 |
437 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351234574 CA392952898 |
439 | Q>* | No |
ClinGen TOPMed |
|
|
rs750746354 CA7625604 |
441 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7625605 rs144575461 |
442 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270090383 CA392952954 |
443 | S>C | No |
ClinGen Ensembl |
|
|
rs1435360983 CA392952949 |
443 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392952966 rs1567049271 |
444 | L>F | No |
ClinGen Ensembl |
|
|
CA7625607 rs747159932 |
446 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1360783054 CA392953162 |
448 | E>K | No |
ClinGen gnomAD |
|
|
rs755220575 CA7625628 |
453 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755220575 CA392953202 |
453 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625629 rs368082642 |
454 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA392953213 rs1219848512 |
455 | V>A | No |
ClinGen gnomAD |
|
|
rs756159007 CA392953218 |
456 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7625631 rs756159007 |
456 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA392953226 rs1353771907 |
457 | I>M | No |
ClinGen gnomAD |
|
|
CA7625633 rs749206771 |
457 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777717814 CA7625632 |
457 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625634 rs770791665 |
460 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs770791665 CA271683174 |
460 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7625635 rs200770623 |
463 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745707724 CA7625636 |
464 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA392953277 rs1474811865 |
465 | Q>R | No |
ClinGen gnomAD |
|
|
rs1014235625 CA271683190 |
467 | L>F | No |
ClinGen Ensembl |
|
|
rs771712554 CA7625637 |
469 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA271683195 rs935241880 |
469 | H>Y | No |
ClinGen TOPMed |
|
|
rs775184821 CA7625638 |
472 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625639 rs200409020 |
473 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763594625 CA7625641 |
475 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542360758 CA7625642 |
476 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392953366 rs1326115738 |
478 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7625643 rs763469678 |
480 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7625644 rs767043050 |
482 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA392953426 rs1368869314 |
485 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1234213243 CA392953440 |
486 | E>K | No |
ClinGen gnomAD |
|
|
CA7625645 rs751967738 |
487 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755451520 CA7625646 |
488 | L>F | No |
ClinGen ExAC |
|
|
rs752897918 CA7625649 |
489 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1316103607 CA392953524 |
491 | L>S | No |
ClinGen TOPMed |
|
|
CA392953538 rs1203717295 |
492 | T>K | No |
ClinGen gnomAD |
|
|
CA392953549 rs1233813750 |
493 | Q>* | No |
ClinGen TOPMed |
|
|
CA7625659 rs768216135 |
494 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392953615 rs1274596497 |
495 | C>F | No |
ClinGen gnomAD |
|
|
CA271683954 rs549811304 |
496 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1212476412 CA392953630 |
497 | K>N | No |
ClinGen gnomAD |
|
|
rs569962378 CA7625660 |
498 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7625661 rs761296511 |
499 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA271683959 rs562397303 |
499 | Y>H | No |
ClinGen gnomAD |
|
|
rs766979661 CA7625662 |
500 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 503 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184225895 CA7625663 |
503 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167404529 CA392953677 |
504 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1567051184 CA392953679 |
505 | D>N | No |
ClinGen Ensembl |
|
|
CA392953689 rs1461092672 |
506 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1332182552 CA392953692 |
506 | E>G | No |
ClinGen gnomAD |
|
|
rs1332182552 CA392953691 |
506 | E>V | No |
ClinGen gnomAD |
|
|
CA392953708 rs1398705837 |
508 | H>L | No |
ClinGen gnomAD |
|
|
CA392953707 rs1398705837 |
508 | H>R | No |
ClinGen gnomAD |
|
|
CA271683975 rs890180796 |
509 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753022831 CA7625666 |
509 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271683981 rs140334767 |
511 | Q>R | No |
ClinGen ESP gnomAD |
|
|
rs866791832 CA271683987 |
512 | L>M | No |
ClinGen Ensembl |
|
|
CA392953733 rs1567051226 |
512 | L>P | No |
ClinGen Ensembl |
|
|
rs1294778250 CA392953757 |
516 | P>L | No |
ClinGen gnomAD |
|
|
CA392953761 rs1332276134 |
517 | T>A | No |
ClinGen gnomAD |
|
|
CA7625667 rs760925092 |
517 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7625668 rs764259303 |
518 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs753952884 CA7625669 |
519 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA392953782 COSM1234851 rs1249677443 |
520 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA271684000 rs943083947 |
521 | N>D | No |
ClinGen gnomAD |
|
|
rs778981545 CA7625671 |
523 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475034763 CA392953805 |
524 | Q>E | No |
ClinGen gnomAD |
|
|
CA392954527 rs1420644455 |
525 | S>R | No |
ClinGen gnomAD |
|
|
rs747760389 CA271686298 |
528 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747760389 CA7625695 |
528 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144273335 CA7625696 |
529 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294300632 CA392954571 |
531 | W>* | No |
ClinGen gnomAD |
|
|
rs1380151587 CA392954565 |
531 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7625697 rs373125098 |
533 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625699 rs75532475 |
535 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7625698 rs376057448 |
535 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1490672514 CA392954656 |
536 | Y>* | No |
ClinGen TOPMed |
|
|
rs1246266999 CA392954643 |
536 | Y>H | No |
ClinGen TOPMed |
|
|
rs888302102 CA271686322 |
537 | S>G | No |
ClinGen Ensembl |
|
|
rs775924197 CA7625700 |
538 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 541 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262239983 CA392954787 |
544 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 546 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7625702 rs139335459 |
546 | W>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625703 rs201080159 |
547 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761976244 CA7625705 |
549 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1192333140 CA392954880 |
550 | D>A | No |
ClinGen gnomAD |
|
|
CA271686376 rs1005454290 |
551 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs202040277 CA7625706 |
553 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773245805 CA271686382 |
554 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773245805 CA7625707 |
554 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392954911 rs1323850605 |
554 | I>V | No |
ClinGen gnomAD |
|
|
CA7625709 rs375608651 |
555 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7625711 rs574259380 |
556 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7625710 rs574259380 |
556 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767166759 CA7625712 |
557 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752585176 CA7625713 |
558 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs755794911 CA7625714 |
561 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312603497 CA392955367 |
564 | F>L | No |
ClinGen TOPMed |
|
|
CA7625734 rs372166697 |
565 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392955395 rs1567055061 |
568 | T>I | No |
ClinGen Ensembl |
|
|
CA7625737 rs149217755 |
569 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271692824 rs942470933 |
571 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7625740 rs547318979 |
571 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770075683 CA7625741 |
573 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA392955435 rs1216359366 |
575 | E>A | No |
ClinGen gnomAD |
|
|
CA392955442 rs1270930238 |
576 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA392955443 rs1270930238 |
576 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773597871 CA7625742 |
577 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7625743 rs749420690 |
579 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759726067 CA7625746 |
582 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs774261063 CA7625745 |
582 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7625747 rs771886892 |
583 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA392955489 rs771886892 |
583 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7625748 rs377164724 |
585 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760696190 CA7625749 |
586 | S>C | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H900
1 regional properties for Q9H900
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, SWIM-type | 139 - 176 | IPR007527 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| kinetochore microtubule | Any of the spindle microtubules that attach to the kinetochores of chromosomes by their plus ends, and maneuver the chromosomes during mitotic or meiotic chromosome segregation. |
| RZZ complex | A kinetochore component required for both meiotic and mitotic spindle assembly checkpoints. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| mitotic spindle assembly checkpoint signaling | A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle. |
| protein localization to kinetochore | Any process in which a protein is transported to, or maintained at, the kinetochore. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8R060 | Zwilch | Protein zwilch homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWERLNCAAE | DFYSRLLQKF | NEEKKGIRKD | PFLYEADVQV | QLISKGQPNP | LKNILNENDI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VFIVEKVPLE | KEETSHIEEL | QSEETAISDF | STGENVGPLA | LPVGKARQLI | GLYTMAHNPN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MTHLKINLPV | TALPPLWVRC | DSSDPEGTCW | LGAELITTNN | SITGIVLYVV | SCKADKNYSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLENLKNLHK | KRHHLSTVTS | KGFAQYELFK | SSALDDTITA | SQTAIALDIS | WSPVDEILQI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PPLSSTATLN | IKVESGEPRG | PLNHLYRELK | FLLVLADGLR | TGVTEWLEPL | EAKSAVELVQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EFLNDLNKLD | GFGDSTKKDT | EVETLKHDTA | AVDRSVKRLF | KVRSDLDFAE | QLWCKMSSSV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ISYQDLVKCF | TLIIQSLQRG | DIQPWLHSGS | NSLLSKLIHQ | SYHGTMDTVS | LSGTIPVQML |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LEIGLDKLKK | DYISFFIGQE | LASLNHLEYF | IAPSVDIQEQ | VYRVQKLHHI | LEILVSCMPF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IKSQHELLFS | LTQICIKYYK | QNPLDEQHIF | QLPVRPTAVK | NLYQSEKPQK | WRVEIYSGQK |
| 550 | 560 | 570 | 580 | 590 | |
| KIKTVWQLSD | SSPIDHLNFH | KPDFSELTLN | GSLEERIFFT | NMVTCSQVHF | K |