Q9H172
Gene name |
ABCG4 |
Protein name |
ATP-binding cassette sub-family G member 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64137 |
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 Q9H172
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H172-F1 | Predicted | AlphaFoldDB |
443 variants for Q9H172
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA174732 rs193920956 CA6315897 RCV000149295 |
79 | R>S | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA382972480 rs780697967 |
2 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6315855 rs780697967 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556090631 CA6315857 |
5 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6315856 rs556090631 |
5 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748349948 CA6315859 |
6 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA382972620 rs1211588013 |
9 | V>E | No |
ClinGen gnomAD |
|
|
rs1312211427 CA382972612 |
9 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382972616 rs1312211427 |
9 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749303159 CA6315862 |
10 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA382972668 rs1592300984 |
11 | C>W | No |
ClinGen Ensembl |
|
|
rs1285852678 CA382972691 |
13 | L>V | No |
ClinGen TOPMed |
|
|
rs760610599 CA6315865 |
14 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113286118 CA6315867 |
15 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6315866 rs763828257 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425994328 CA382972758 |
16 | G>E | No |
ClinGen gnomAD |
|
|
CA6315868 rs761710828 |
17 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6315869 rs761710828 |
17 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229643404 rs535425291 |
18 | V>A | No |
ClinGen 1000Genomes |
|
|
CA6315871 rs757980952 |
19 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA229643406 rs1056691142 |
19 | A>T | No |
ClinGen gnomAD |
|
|
CA229643418 rs757980952 |
19 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382972833 rs765996611 |
20 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs765996611 CA6315872 |
20 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs896751158 CA229643453 |
22 | V>L | No |
ClinGen gnomAD |
|
|
rs896751158 CA382972871 |
22 | V>M | No |
ClinGen gnomAD |
|
|
rs752059482 CA6315873 |
23 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382972899 rs752059482 |
23 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370319134 CA382972929 |
27 | G>W | No |
ClinGen gnomAD |
|
|
rs1026169077 CA229643520 |
28 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382973011 rs1316938454 |
30 | P>H | No |
ClinGen gnomAD |
|
|
rs1045464167 CA229643526 |
30 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1232511268 CA382973035 |
32 | V>M | No |
ClinGen TOPMed |
|
|
rs1198810776 CA382973077 |
34 | T>I | No |
ClinGen gnomAD |
|
|
rs572504625 CA6315877 |
35 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777842874 CA6315878 |
36 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592301156 CA382973199 |
40 | V>G | No |
ClinGen Ensembl |
|
|
rs1565812180 CA382973279 |
44 | I>V | No |
ClinGen Ensembl |
|
|
rs147880811 CA6315879 |
45 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6315880 rs770930131 |
47 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6315882 rs746909495 |
49 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6315883 rs768550146 |
50 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761500962 CA6315885 |
55 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382973585 rs1160569038 |
56 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6315887 rs769699547 |
60 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1398632499 CA382973673 |
60 | D>Y | No |
ClinGen gnomAD |
|
|
CA382973735 rs1218889667 |
62 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA382973784 rs1461324097 |
63 | F>L | No |
ClinGen TOPMed |
|
|
CA382973796 rs1271622785 |
64 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1271622785 CA382973793 |
64 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA382973825 rs1161903548 |
65 | E>D | No |
ClinGen TOPMed |
|
|
rs1353787206 CA382973828 |
66 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765941668 CA6315890 |
71 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 71 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759152966 CA382973981 |
73 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6315892 rs759152966 |
73 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751142020 CA6315891 |
73 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489525923 CA382973998 |
74 | P>L | No |
ClinGen TOPMed |
|
|
rs199826436 CA6315893 |
74 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382974044 rs1211759170 |
76 | W>* | No |
ClinGen TOPMed |
|
|
rs1367006399 CA382974071 |
77 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6315895 rs756429171 |
79 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs756429171 CA6315896 |
79 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA382888892 rs1318958883 |
81 | Y>F | No |
ClinGen TOPMed |
|
|
rs757667984 CA6315916 |
83 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 86 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382889048 rs1565813615 |
87 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382889154 rs1241015264 |
91 | K>E | No |
ClinGen gnomAD |
|
|
CA6315918 rs750712652 |
91 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6315920 rs758347342 |
94 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382889231 rs758347342 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145297995 CA6315921 |
94 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6315922 rs145297995 |
94 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764723664 CA6315923 |
95 | R>Q | No |
ClinGen ExAC |
|
|
rs370550232 CA6315925 |
95 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6315924 rs756111918 |
95 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754280930 CA6315926 |
97 | L>K | No |
ClinGen ExAC |
|
|
rs1592303982 CA382889341 |
98 | I>T | No |
ClinGen Ensembl |
|
|
rs749064882 CA6315927 |
100 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1334565539 CA382889445 |
101 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373954461 CA6315928 |
104 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6315929 rs774139491 |
106 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1565813685 CA382889705 |
110 | T>A | No |
ClinGen Ensembl |
|
|
rs1400833794 CA382889714 |
110 | T>I | No |
ClinGen TOPMed |
|
|
CA229597064 rs909250242 |
112 | M>V | No |
ClinGen TOPMed |
|
|
CA382889850 rs1465141157 |
114 | I>M | No |
ClinGen gnomAD |
|
|
CA382889951 rs1592304041 |
117 | G>A | No |
ClinGen Ensembl |
|
|
rs1407919666 CA382889940 |
117 | G>R | No |
ClinGen gnomAD |
|
|
rs1291570989 CA382890133 |
120 | E>K | No |
ClinGen gnomAD |
|
|
CA382890152 rs1377509758 |
120 | E>V | No |
ClinGen TOPMed |
|
|
CA6315945 rs749302228 |
124 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333174402 CA382890270 |
125 | G>W | No |
ClinGen TOPMed |
|
|
rs1471929293 CA382890302 |
126 | Q>* | No |
ClinGen gnomAD |
|
|
CA382890301 rs1471929293 |
126 | Q>K | No |
ClinGen gnomAD |
|
|
CA6315947 rs778862594 |
132 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs771787304 CA6315949 |
134 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745462090 CA6315948 |
134 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382890525 rs1293684821 |
135 | E>K | No |
ClinGen TOPMed |
|
|
CA6315950 rs775055244 |
138 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775055244 CA382890614 |
138 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592304234 CA382890611 |
138 | T>P | No |
ClinGen Ensembl |
|
|
CA382890666 rs1309476298 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6315951 rs746516183 |
140 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382890751 rs1366265292 |
143 | S>P | No |
ClinGen TOPMed |
|
|
CA6315952 rs768224555 |
146 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA382890898 rs1592304271 |
147 | M>I | No |
ClinGen Ensembl |
|
|
rs368829236 CA229597181 |
147 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA6315953 rs777057755 |
149 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225318993 CA382891000 |
150 | D>E | No |
ClinGen gnomAD |
|
|
rs762324269 CA6315954 |
151 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201626266 CA6315955 |
154 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382891148 rs1419874659 |
155 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1429917297 CA382891156 |
156 | L>F | No |
ClinGen gnomAD |
|
|
rs201410516 CA6315957 |
157 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1354350465 CA382891221 |
158 | V>L | No |
ClinGen TOPMed |
|
|
CA229597239 rs1009261000 |
160 | E>K | No |
ClinGen Ensembl |
|
|
rs1311313732 CA382891349 |
163 | M>I | No |
ClinGen TOPMed |
|
|
CA382891431 rs1302538581 |
164 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1306929462 CA382891437 |
165 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777601667 CA6315973 |
167 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs942021977 CA229597420 |
171 | S>I | No |
ClinGen Ensembl |
|
|
CA382891548 rs1235117327 |
171 | S>R | No |
ClinGen TOPMed |
|
|
CA6315976 rs771263731 |
173 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1343282291 CA382891645 |
174 | Q>E | No |
ClinGen TOPMed |
|
|
CA6315978 rs759849467 |
176 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs545137934 CA6315980 |
180 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6316003 rs373868091 |
181 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751328446 CA6316005 |
184 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 185 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6316009 rs759467898 |
186 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285427567 CA382892319 |
188 | L>Q | No |
ClinGen TOPMed |
|
|
rs1224792047 CA382892329 |
189 | G>S | No |
ClinGen gnomAD |
|
|
rs1316919603 CA382892406 |
191 | M>T | No |
ClinGen gnomAD |
|
|
CA229597716 rs141832911 |
192 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141832911 CA6316012 |
192 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772632416 CA6316015 |
195 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs151176056 CA6316016 |
196 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768734717 CA6316018 |
197 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1191585786 CA382892571 |
198 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6316020 rs776608146 |
201 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA382892644 rs1167569024 |
202 | S>P | No |
ClinGen gnomAD |
|
|
rs1405325729 CA382892678 |
203 | G>C | No |
ClinGen gnomAD |
|
|
rs774335112 CA6316024 |
204 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6316026 rs201318219 |
208 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6316027 rs752285981 |
210 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs575247461 CA6316031 |
212 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575247461 CA6316030 |
212 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758779632 CA6316034 |
214 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6316035 rs780589874 |
219 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs768732954 CA6316037 |
221 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472703500 CA382893452 |
226 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769978545 CA6316040 |
227 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs769978545 CA382893476 |
227 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1418335384 CA382893517 |
228 | T>A | No |
ClinGen gnomAD |
|
|
rs1407979358 CA382894994 |
229 | S>R | No |
ClinGen gnomAD |
|
|
rs773566111 CA229598883 |
231 | L>V | No |
ClinGen Ensembl |
|
|
CA382895143 rs1444271674 |
233 | S>G | No |
ClinGen gnomAD |
|
|
rs202183518 CA6316061 |
234 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382895399 rs775457212 |
240 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775457212 CA6316062 |
240 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA382895432 rs1273083359 |
241 | S>Y | No |
ClinGen gnomAD |
|
|
CA382895447 rs1204493323 |
242 | L>F | No |
ClinGen gnomAD |
|
|
CA382895538 rs1456745292 |
244 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs990707876 CA229598895 |
245 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA382895781 rs1195565008 |
250 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1250368527 CA382895798 |
251 | R>C | No |
ClinGen gnomAD |
|
|
CA382895833 rs1251937763 |
251 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs776089802 CA6316065 |
252 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183376841 CA382895890 |
253 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6316067 rs137886209 |
253 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319636489 CA382895909 |
253 | I>T | No |
ClinGen TOPMed |
|
|
rs1183376841 CA382895873 |
253 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382896113 rs1479925491 |
258 | H>Q | No |
ClinGen gnomAD |
|
|
CA382896219 rs1432047991 |
261 | S>I | No |
ClinGen TOPMed |
|
|
rs1176762189 CA382896247 |
263 | K>E | No |
ClinGen gnomAD |
|
|
rs374389742 CA6316068 |
264 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1172705010 CA382896326 |
265 | F>S | No |
ClinGen gnomAD |
|
|
rs1397130905 CA382896379 |
268 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA229599001 rs1002065770 |
273 | I>T | No |
ClinGen TOPMed |
|
|
rs774666899 CA6316091 |
273 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1484701613 CA382896634 |
278 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA229599018 rs986593942 |
282 | K>R | No |
ClinGen Ensembl |
|
|
CA6316094 rs753076717 |
283 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6316096 rs764288490 |
284 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6316100 rs746879394 |
286 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6316099 rs779072546 |
286 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358661552 CA382896881 |
287 | N>S | No |
ClinGen gnomAD |
|
|
CA229599069 rs752353129 |
290 | P>L | No |
ClinGen Ensembl |
|
|
rs1453112230 CA382896934 |
290 | P>S | No |
ClinGen gnomAD |
|
|
CA6316101 rs754911669 |
291 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA382896954 rs1364338265 |
291 | Y>H | No |
ClinGen gnomAD |
|
|
rs369406470 CA6316104 |
296 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1565815160 CA382897085 |
297 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6316106 rs748966571 |
301 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1214429256 CA382897219 |
302 | Y>F | No |
ClinGen gnomAD |
|
|
rs1592306242 CA382897243 |
303 | H>P | No |
ClinGen Ensembl |
|
|
rs770520477 CA6316108 |
305 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA229599334 rs993321162 |
311 | E>K | No |
ClinGen TOPMed |
|
|
CA229599353 rs200654761 |
313 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200654761 CA6316129 |
313 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156740857 CA382897798 |
315 | G>A | No |
ClinGen gnomAD |
|
|
rs1410189384 CA382897810 |
316 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1479596747 CA382897885 |
318 | G>E | No |
ClinGen gnomAD |
|
|
CA382897913 rs1176027430 |
319 | D>H | No |
ClinGen gnomAD |
|
|
rs138271208 CA6316130 |
321 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6316131 rs761184976 |
323 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA382898081 rs1329889399 |
325 | F>Y | No |
ClinGen TOPMed |
|
|
CA6316133 rs776949339 |
328 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316134 rs762213676 |
330 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6316138 rs763019179 |
333 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs763019179 CA6316137 |
333 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201193587 CA6316140 |
334 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382898242 rs1205084141 |
335 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763585790 CA229599440 |
335 | M>V | No |
ClinGen TOPMed |
|
|
CA229599446 rs935366483 |
337 | E>D | No |
ClinGen Ensembl |
|
|
CA382898350 rs1489893866 |
340 | S>G | No |
ClinGen gnomAD |
|
|
CA229599447 rs1056913805 |
341 | S>N | No |
ClinGen Ensembl |
|
|
CA382898480 rs12271907 CA6316143 |
345 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382898485 rs1228303791 |
346 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6316146 rs370592684 |
347 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370592684 CA6316145 |
347 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316147 rs143133021 |
348 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs958235063 CA229599480 |
351 | C>W | No |
ClinGen TOPMed |
|
|
CA6316148 rs35060365 RCV000959236 VAR_048141 |
352 | P>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6316149 rs746561710 |
353 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA382898622 rs1410854023 |
354 | C>F | No |
ClinGen gnomAD |
|
|
CA382898647 rs1173227072 |
355 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769128490 CA6316150 |
356 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868434734 CA229600619 |
357 | E>G | No |
ClinGen gnomAD |
|
|
CA382900282 rs1278975696 |
360 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382900288 rs1278975696 |
360 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6316182 rs765259348 |
360 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6316183 rs151021657 |
361 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758270241 CA6316184 |
363 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1592307614 CA382900410 |
365 | T>P | No |
ClinGen Ensembl |
|
|
rs1353875618 CA382900537 |
369 | S>N | No |
ClinGen gnomAD |
|
|
CA382900563 rs1592307635 |
370 | T>P | No |
ClinGen Ensembl |
|
|
CA6316185 rs766009741 |
373 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA382900627 rs1592307652 |
374 | F>Y | No |
ClinGen Ensembl |
|
|
rs754425127 CA6316187 |
377 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382900745 rs1592307668 |
381 | T>P | No |
ClinGen Ensembl |
|
|
rs1250189690 CA382900794 |
382 | F>L | No |
ClinGen TOPMed |
|
|
CA382900814 rs1482405501 |
383 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1362658862 CA382900843 |
385 | I>V | No |
ClinGen gnomAD |
|
|
CA382900889 rs1470324875 |
388 | D>N | No |
ClinGen gnomAD |
|
| rs905395186 | 389 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139556601 CA6316189 |
389 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6316236 rs780071418 |
392 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs768567393 CA382901171 |
393 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6316237 rs747267202 |
393 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs149710791 CA6316241 |
395 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6316240 rs748264266 |
395 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs988866584 CA229600983 |
396 | F>L | No |
ClinGen TOPMed |
|
|
rs774334992 CA6316243 |
396 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759324902 CA6316244 |
400 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771908038 CA6316245 |
401 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316246 rs774948961 |
402 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229601034 rs916959660 |
403 | G>A | No |
ClinGen Ensembl |
|
|
CA6316248 rs376407071 |
404 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1314171877 CA382901430 |
405 | L>V | No |
ClinGen gnomAD |
|
|
CA6316250 rs761465370 |
410 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1466124366 CA382901517 |
412 | H>R | No |
ClinGen gnomAD |
|
|
rs1201520852 CA382901528 |
413 | I>V | No |
ClinGen gnomAD |
|
|
rs145359289 CA6316253 |
415 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751687769 CA6316255 |
416 | D>N | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6316256 rs755194527 |
418 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382901620 rs1468632900 |
420 | V>I | No |
ClinGen gnomAD |
|
|
rs1235803642 CA382901647 |
422 | N>D | No |
ClinGen TOPMed |
|
|
rs534751103 CA6316257 |
422 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382901676 rs1360263414 |
424 | T>A | No |
ClinGen gnomAD |
|
|
CA382901674 rs1360263414 |
424 | T>P | No |
ClinGen gnomAD |
|
|
rs368538395 CA382901687 |
425 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368538395 CA6316259 |
425 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6316262 rs745822468 |
428 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA382901745 rs1055587280 |
431 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA382901739 rs1592308152 |
431 | M>L | No |
ClinGen Ensembl |
|
|
CA229601160 rs1055587280 |
431 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 431 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382901758 rs1312737791 |
432 | L>V | No |
ClinGen gnomAD |
|
|
rs553162084 CA6316264 |
435 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1182985058 CA382901852 |
437 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6316269 rs776492089 |
438 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316268 rs776492089 |
438 | A>T | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764852970 CA6316270 |
441 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773804988 CA6316271 |
442 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382901983 rs1428619949 |
445 | T>S | No |
ClinGen gnomAD |
|
|
rs1348320077 CA382902092 |
446 | F>L | No |
ClinGen TOPMed |
|
|
CA382902096 rs1164337286 |
447 | P>A | No |
ClinGen TOPMed |
|
|
rs757341188 CA6316299 |
447 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779974362 CA6316300 |
450 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA6316301 rs575857582 |
451 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6316302 rs754770221 |
451 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382902268 rs1592308389 |
452 | V>G | No |
ClinGen Ensembl |
|
|
rs747993546 CA6316304 |
453 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146420624 CA6316305 |
454 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA229601467 rs967325139 |
454 | M>T | No |
ClinGen TOPMed |
|
|
rs777346454 CA6316306 |
456 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA382902584 rs1406689468 |
461 | W>C | No |
ClinGen gnomAD |
|
|
rs185176960 CA382902637 |
462 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770355800 CA6316309 |
466 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316312 rs772386778 |
469 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA229601556 rs527422682 |
472 | T>S | No |
ClinGen Ensembl |
|
|
CA382903014 rs1267230867 |
474 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1284794075 CA382903051 |
475 | D>G | No |
ClinGen gnomAD |
|
|
rs764288479 CA6316315 |
476 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747370851 CA6316331 |
483 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747370851 CA382905135 |
483 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 484 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6316333 rs776862890 |
486 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1194021184 CA382905259 |
487 | C>Y | No |
ClinGen Ensembl |
|
|
rs761972933 CA6316334 |
490 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6316335 rs765535350 |
491 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA382905446 rs1344960192 |
492 | W>* | No |
ClinGen gnomAD |
|
|
CA6316336 rs201390504 |
494 | T>M | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA382905562 rs1443695664 |
495 | G>S | No |
ClinGen gnomAD |
|
|
CA382905640 rs1250620799 |
497 | P>L | No |
ClinGen gnomAD |
|
|
CA6316339 rs752683213 |
498 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6316340 rs755918336 |
498 | A>V | No |
ClinGen ExAC |
|
|
CA382905668 rs1294862376 |
499 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763821200 CA6316341 |
500 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs753493720 CA6316342 |
500 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6316343 rs575096171 |
502 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374791984 CA229602872 |
502 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6316344 rs778676229 |
503 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA382905946 rs1367719164 |
506 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382906026 rs1385693209 |
509 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1333180580 CA382906040 |
510 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs542544848 CA6316348 |
511 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6316350 rs776828959 |
512 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316352 rs769891019 |
513 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA382906114 rs1565817375 |
514 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA382906128 rs1167813458 |
515 | L>* | No |
ClinGen TOPMed |
|
|
CA382906146 rs1167813458 |
515 | L>W | No |
ClinGen TOPMed |
|
| TCGA novel | 516 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382906401 rs775522341 |
524 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764136296 CA6316358 |
525 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs957778752 CA229603024 |
526 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382906490 rs1592309580 |
528 | S>P | No |
ClinGen Ensembl |
|
|
CA382906530 rs1275067131 |
529 | N>I | No |
ClinGen TOPMed |
|
|
rs757135248 CA6316360 |
532 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs939843093 CA229603038 |
532 | Q>H | No |
ClinGen TOPMed |
|
|
rs1565817582 CA382906694 |
533 | V>M | No |
ClinGen Ensembl |
|
|
CA229603342 rs749795833 |
534 | A>S | No |
ClinGen TOPMed |
|
|
rs749795833 CA229603340 |
534 | A>T | No |
ClinGen TOPMed |
|
|
CA382906732 rs1305022188 |
535 | T>S | No |
ClinGen TOPMed |
|
|
rs781482503 CA6316384 |
536 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6316385 rs753258657 |
537 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1180216431 CA382906833 |
539 | P>S | No |
ClinGen gnomAD |
|
|
rs1022932469 CA229603392 |
542 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1022932469 CA382906876 |
542 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA229603406 rs970137459 |
542 | A>V | No |
ClinGen TOPMed |
|
|
rs1166512830 CA382906881 |
543 | I>L | No |
ClinGen gnomAD |
|
|
CA382906933 rs1300804645 |
546 | L>I | No |
ClinGen gnomAD |
|
|
CA229603412 rs796568349 |
550 | G>S | No |
ClinGen gnomAD |
|
|
rs1391503054 CA382907006 |
551 | F>L | No |
ClinGen gnomAD |
|
|
CA6316391 rs745931400 |
554 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396091218 CA382907222 |
560 | T>A | No |
ClinGen gnomAD |
|
|
rs1371863138 CA382907311 |
563 | Q>* | No |
ClinGen gnomAD |
|
|
rs933263501 CA229603430 |
565 | S>N | No |
ClinGen Ensembl |
|
|
rs772198391 CA382907440 |
565 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382907457 rs1348164599 |
567 | Y>H | No |
ClinGen gnomAD |
|
|
CA6316393 rs150237922 |
570 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 570 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 571 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 571 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6316414 rs749012531 |
572 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs909302974 CA229603705 |
574 | G>R | No |
ClinGen Ensembl |
|
|
rs963524374 CA229603726 |
576 | E>Q | No |
ClinGen Ensembl |
|
|
rs1565817876 CA382907856 |
577 | G>D | No |
ClinGen Ensembl |
|
|
rs773823706 CA382907870 |
578 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6316416 rs773823706 |
578 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368207364 CA382907967 |
581 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6316417 rs763753494 |
582 | I>* | No |
ClinGen ExAC gnomAD |
|
|
CA382908019 rs1308329431 |
583 | Y>C | No |
ClinGen gnomAD |
|
|
rs767118091 CA6316419 |
584 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA229603768 rs971853284 |
586 | E>Q | No |
ClinGen Ensembl |
|
|
rs760323610 CA382908101 |
587 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6316421 rs760323610 |
587 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs764693748 CA6316422 |
587 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382908165 rs1592310106 |
589 | D>A | No |
ClinGen Ensembl |
|
|
rs754402031 CA6316424 |
590 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA382908224 rs1229221738 |
591 | T>R | No |
ClinGen gnomAD |
|
|
rs919131196 CA229603838 |
592 | C>R | No |
ClinGen gnomAD |
|
|
CA229603839 rs1043505078 |
593 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765658479 CA6316427 |
596 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6316428 rs750791458 |
596 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765658479 CA382908366 |
596 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316429 rs571213849 |
598 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200842214 CA382908466 |
600 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777625706 CA6316434 |
600 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200842214 CA6316433 |
600 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749242753 CA382908505 |
601 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233138623 CA382908572 |
604 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs575133154 CA6316436 |
604 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774166783 CA6316437 |
605 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442816279 CA382908589 |
605 | I>N | No |
ClinGen gnomAD |
|
|
rs774166783 CA382908582 |
605 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6316438 rs745702387 |
607 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6316439 rs771746468 |
607 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6316440 rs775075804 |
608 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6316443 rs777230608 |
610 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA229603994 rs910178934 |
612 | E>G | No |
ClinGen gnomAD |
|
|
rs1290831780 CA382908786 |
613 | D>V | No |
ClinGen gnomAD |
|
|
rs868795453 CA229604002 |
614 | A>S | No |
ClinGen Ensembl |
|
|
CA6316444 rs762376380 |
616 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1429776326 CA382908987 |
618 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382909079 rs1300186022 |
620 | F>L | No |
ClinGen TOPMed |
|
|
rs750782915 CA6316448 |
621 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA382909265 rs1243389094 |
626 | F>L | No |
ClinGen gnomAD |
|
|
rs1471512431 CA382909308 |
627 | F>S | No |
ClinGen gnomAD |
|
|
rs536060950 CA6316449 |
628 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781278864 CA6316453 |
630 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752815717 CA382909435 |
631 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382909437 rs1320169801 |
631 | R>Q | No |
ClinGen gnomAD |
|
|
rs752815717 CA6316454 |
631 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745672117 CA6316457 |
634 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382909521 rs1592310320 |
635 | Y>S | No |
ClinGen Ensembl |
|
|
CA6316459 rs779702795 |
639 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6316460 rs746685392 |
639 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6316461 rs768243617 |
641 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211180265 CA382909655 |
641 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 642 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6316462 rs147493505 |
643 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382909774 rs1186148458 |
645 | E>K | No |
ClinGen gnomAD |
|
|
CA382909846 rs1264244876 |
647 | R>Q | No |
ClinGen TOPMed |
No associated diseases with Q9H172
5 regional properties for Q9H172
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 61 - 301 | IPR003439 |
| domain | AAA+ ATPase domain | 94 - 285 | IPR003593 |
| domain | ABC-2 type transporter, transmembrane domain | 372 - 581 | IPR013525 |
| conserved_site | ABC transporter-like, conserved site | 201 - 215 | IPR017871 |
| domain | ABC transporter family G domain | 258 - 316 | IPR043926 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type sterol transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + sterol(in) = ADP + phosphate + sterol(out). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to high density lipoprotein particle stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a high density lipoprotein particle stimulus. |
| cellular response to leukemia inhibitory factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus. |
| cholesterol efflux | The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| positive regulation of cholesterol biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. |
| positive regulation of cholesterol efflux | Any process that increases the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P45844 | ABCG1 | ATP-binding cassette sub-family G member 1 | Homo sapiens (Human) | PR |
| Q99PE8 | Abcg5 | ATP-binding cassette sub-family G member 5 | Mus musculus (Mouse) | PR |
| Q64343 | Abcg1 | ATP-binding cassette sub-family G member 1 | Mus musculus (Mouse) | PR |
| Q99PE7 | Abcg5 | ATP-binding cassette sub-family G member 5 | Rattus norvegicus (Rat) | PR |
| Q09466 | wht-3 | ABC transporter ATP-binding protein/permease wht-3 | Caenorhabditis elegans | PR |
| Q11180 | wht-1 | ABC transporter ATP-binding protein/permease wht-1 | Caenorhabditis elegans | PR |
| Q9MAG3 | ABCG24 | ABC transporter G family member 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M2V6 | ABCG17 | ABC transporter G family member 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9MAH4 | ABCG10 | ABC transporter G family member 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SZR9 | ABCG9 | ABC transporter G family member 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEKALEAVG | CGLGPGAVAM | AVTLEDGAEP | PVLTTHLKKV | ENHITEAQRF | SHLPKRSAVD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEFVELSYSV | REGPCWRKRG | YKTLLKCLSG | KFCRRELIGI | MGPSGAGKST | FMNILAGYRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGMKGQILVN | GRPRELRTFR | KMSCYIMQDD | MLLPHLTVLE | AMMVSANLKL | SEKQEVKKEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTEILTALGL | MSCSHTRTAL | LSGGQRKRLA | IALELVNNPP | VMFFDEPTSG | LDSASCFQVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLMKSLAQGG | RTIICTIHQP | SAKLFEMFDK | LYILSQGQCI | FKGVVTNLIP | YLKGLGLHCP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TYHNPADFII | EVASGEYGDL | NPMLFRAVQN | GLCAMAEKKS | SPEKNEVPAP | CPPCPPEVDP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IESHTFATST | LTQFCILFKR | TFLSILRDTV | LTHLRFMSHV | VIGVLIGLLY | LHIGDDASKV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FNNTGCLFFS | MLFLMFAALM | PTVLTFPLEM | AVFMREHLNY | WYSLKAYYLA | KTMADVPFQV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VCPVVYCSIV | YWMTGQPAET | SRFLLFSALA | TATALVAQSL | GLLIGAASNS | LQVATFVGPV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TAIPVLLFSG | FFVSFKTIPT | YLQWSSYLSY | VRYGFEGVIL | TIYGMERGDL | TCLEERCPFR |
| 610 | 620 | 630 | 640 | ||
| EPQSILRALD | VEDAKLYMDF | LVLGIFFLAL | RLLAYLVLRY | RVKSER |