Q6ZN66
PR
Gene name |
GBP6 |
Protein name |
Guanylate-binding protein 6 |
Names |
GTP-binding protein 6, GBP-6, Guanine nucleotide-binding protein 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:163351 |
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 Q6ZN66
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZN66-F1 | Predicted | AlphaFoldDB |
565 variants for Q6ZN66
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1456755717 CA341026165 |
2 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA341026170 rs775309772 |
2 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942428 rs534543469 |
3 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA942429 rs763809484 |
4 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 6 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341026201 rs1196298865 |
7 | M>I | No |
ClinGen gnomAD |
|
|
CA341026214 rs1252580666 |
9 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs116429247 COSM465065 CA942432 |
11 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs116429247 CA341026226 |
11 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753868122 CA942433 |
16 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341026321 rs1376573234 |
19 | E>A | No |
ClinGen gnomAD |
|
|
COSM1503958 rs758780589 CA942437 |
22 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA942438 rs148123280 |
24 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341026385 rs1217674453 |
25 | Q>* | No |
ClinGen gnomAD |
|
|
CA341026407 rs1176604086 |
27 | A>T | No |
ClinGen TOPMed |
|
|
CA26588226 rs1029229399 |
28 | I>T | No |
ClinGen TOPMed |
|
|
CA341026437 rs1308081043 |
30 | I>V | No |
ClinGen gnomAD |
|
|
CA26588229 COSM3419553 rs906797290 |
31 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs747523828 CA942439 |
35 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs370756597 CA26588240 |
35 | S>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777296157 CA942441 |
37 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA942443 rs192717886 |
38 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA942442 rs745327650 |
38 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA341026541 rs1337956670 |
40 | V>A | No |
ClinGen TOPMed |
|
|
CA341026533 rs1428542550 |
40 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341026552 rs1420890942 |
42 | A>T | No |
ClinGen gnomAD |
|
|
CA341026561 rs1305475213 |
42 | A>V | No |
ClinGen TOPMed |
|
|
rs1295769491 CA341026571 |
43 | I>M | No |
ClinGen Ensembl |
|
|
rs200358212 CA942445 |
43 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA942447 rs774052556 |
44 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942446 rs768491590 |
44 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341026589 rs1570459965 |
45 | G>V | No |
ClinGen Ensembl |
|
|
CA942449 rs767318343 |
47 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM365965 rs556935485 CA942448 |
47 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs150615430 CA942450 |
48 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA942451 rs139938902 |
48 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463553180 CA341026629 |
50 | G>R | No |
ClinGen gnomAD |
|
|
CA26588298 rs113354221 |
51 | K>T | No |
ClinGen Ensembl |
|
|
rs1557536532 CA341026654 |
52 | S>Y | No |
ClinGen Ensembl |
|
|
rs1158834112 CA341026676 |
54 | L>S | No |
ClinGen TOPMed |
|
|
CA341026707 rs1570460015 |
57 | H>D | No |
ClinGen Ensembl |
|
|
CA942453 rs200079336 |
57 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942454 rs758590839 |
58 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778181262 CA942455 |
59 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485973172 CA341026774 |
63 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA942456 rs751818540 |
64 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA26588573 rs924137271 |
65 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1181853579 CA341026869 |
66 | P>S | No |
ClinGen gnomAD |
|
|
rs1409174687 CA341026884 |
68 | G>S | No |
ClinGen gnomAD |
|
|
CA341026899 rs1360158843 |
69 | S>F | No |
ClinGen gnomAD |
|
|
CA942474 rs751807626 |
69 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs116036340 CA942475 |
70 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA341026918 rs1357550645 |
71 | V>A | No |
ClinGen gnomAD |
|
|
CA341026932 rs750961119 |
72 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385579014 CA341026927 |
72 | Q>R | No |
ClinGen TOPMed |
|
|
CA942478 rs756724828 |
76 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA26588602 rs770541907 |
77 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA942479 rs770541907 |
77 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs748708580 CA942480 |
78 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255361831 CA341027021 |
80 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 80 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280093187 CA341027028 |
81 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341027045 rs778373002 |
82 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768219359 CA942481 |
82 | C>G | No |
ClinGen ExAC TOPMed |
|
|
rs112244423 CA942483 |
83 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA942487 rs773035311 |
84 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942486 rs773035311 |
84 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942485 rs771853810 |
84 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA341027057 rs771853810 |
84 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA26588651 rs993042397 |
85 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs776659579 CA942489 |
86 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1392483455 CA341027091 |
87 | S>C | No |
ClinGen TOPMed |
|
|
CA341027093 rs1392483455 |
87 | S>F | No |
ClinGen TOPMed |
|
|
rs1175198853 CA341027085 |
87 | S>T | No |
ClinGen gnomAD |
|
|
CA341027126 rs1305665557 |
90 | N>K | No |
ClinGen TOPMed |
|
|
rs868755822 CA26588662 |
91 | H>Y | No |
ClinGen Ensembl |
|
|
rs1329000986 CA341027157 |
93 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341027172 rs1375936263 |
95 | L>H | No |
ClinGen gnomAD |
|
|
rs75966734 CA942494 |
99 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557536998 CA341027216 |
100 | G>D | No |
ClinGen Ensembl |
|
|
rs1164686978 CA341027221 |
101 | L>P | No |
ClinGen TOPMed |
|
|
CA942496 rs116157037 |
102 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767961708 CA942495 |
102 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA942499 rs573767677 |
103 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341027234 rs1473542134 |
104 | V>L | No |
ClinGen TOPMed |
|
|
rs754434114 CA942500 |
105 | E>* | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs115243209 CA341027558 |
107 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115243209 CA942512 |
107 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341027588 CA341027589 rs1212026768 |
111 | N>K | No |
ClinGen gnomAD |
|
|
rs371720942 CA942513 |
112 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs773573942 CA942515 |
113 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs996866683 CA341027608 COSM1688012 |
114 | W>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs996866683 CA26591923 COSM426800 |
114 | W>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1215488566 CA341027634 |
118 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1215488566 CA341027635 |
118 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs865850756 CA341027638 |
119 | A>D | No |
ClinGen gnomAD |
|
|
CA942516 rs761065865 |
119 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA26591928 rs865850756 |
119 | A>V | No |
ClinGen gnomAD |
|
|
rs1422860444 CA341027658 |
123 | C>R | No |
ClinGen gnomAD |
|
|
CA341027661 rs1472982499 |
123 | C>S | No |
ClinGen gnomAD |
|
|
CA341027666 rs1164751612 |
124 | S>G | No |
ClinGen gnomAD |
|
|
rs754297296 CA942518 |
124 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1242954232 CA341027696 |
128 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341027703 rs1489391203 |
129 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs865808474 CA26591933 |
133 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA26591935 rs952814458 |
134 | I>N | No |
ClinGen Ensembl |
|
|
CA341027753 rs1298504854 |
136 | H>Y | No |
ClinGen gnomAD |
|
|
rs1361821458 CA341027760 |
137 | Q>* | No |
ClinGen gnomAD |
|
|
rs543651691 CA341027771 |
138 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA26591938 rs543651691 COSM143491 |
138 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA942520 rs764635315 |
139 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752204040 CA942521 |
140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942522 rs752204040 |
140 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247673115 CA341027789 |
141 | Q>H | No |
ClinGen gnomAD |
|
|
CA26592027 rs750835839 |
144 | Y>S | No |
ClinGen Ensembl |
|
|
rs1043192798 CA26592035 |
146 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA942538 rs373092127 |
146 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373092127 CA942537 |
146 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762389427 CA942539 |
148 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA26592045 rs934325535 |
149 | T>I | No |
ClinGen Ensembl |
|
|
rs139135600 CA942540 |
150 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA942542 rs756942354 |
153 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs751205593 CA942541 |
153 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA942543 rs780827334 |
154 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA341027890 rs1570467787 |
156 | S>A | No |
ClinGen Ensembl |
|
|
rs1370558901 CA341027893 |
156 | S>F | No |
ClinGen TOPMed |
|
|
CA942544 rs372976582 |
158 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942547 rs116171495 CA942546 |
159 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA942545 rs755890809 |
159 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA26592066 rs147453151 |
161 | D>H | No |
ClinGen ESP TOPMed |
|
|
CA942549 rs35837853 |
163 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341027930 rs1475876603 |
163 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 164 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776753385 CA942552 |
165 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770063843 CA942554 |
169 | F>C | No |
ClinGen ExAC TOPMed |
|
|
rs1254129596 CA341027974 |
169 | F>L | No |
ClinGen gnomAD |
|
|
rs1207463975 CA942555 |
171 | S>N | No |
ClinGen TOPMed |
|
|
rs139547805 CA942557 |
172 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341028024 rs1199245796 |
176 | F>L | No |
ClinGen gnomAD |
|
|
rs1229120632 CA341028038 |
178 | W>C | No |
ClinGen TOPMed |
|
|
rs1272622818 CA341028033 |
178 | W>R | No |
ClinGen TOPMed |
|
|
CA942558 rs763515880 |
179 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200988868 CA942562 |
181 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200988868 CA942561 |
181 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141436979 CA942560 COSM913026 |
181 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA26592096 rs868586989 |
182 | D>N | No |
ClinGen Ensembl |
|
|
CA26592104 rs1037568961 |
186 | E>D | No |
ClinGen TOPMed |
|
|
CA942564 rs373557499 |
186 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 187 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341028089 rs1196095908 |
187 | L>P | No |
ClinGen gnomAD |
|
|
COSM161223 CA341028104 rs1376628021 |
189 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1439458018 CA341028115 |
191 | G>D | No |
ClinGen TOPMed |
|
|
rs144008165 COSM1344773 CA942566 |
191 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA26592110 COSM426801 rs952788294 |
192 | H>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1398475505 CA341028129 |
193 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341028128 rs1398475505 |
193 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866123083 CA26592114 |
193 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA341028142 rs1415320555 |
195 | T>I | No |
ClinGen TOPMed |
|
|
CA341028151 rs1223642196 |
197 | D>N | No |
ClinGen gnomAD |
|
|
rs1294288598 CA341028168 |
199 | Y>H | No |
ClinGen gnomAD |
|
|
CA341028176 rs1370040162 |
200 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA942567 rs144565821 |
203 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA942568 rs370118070 |
204 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341028213 rs1184408695 |
205 | K>N | No |
ClinGen TOPMed |
|
|
rs747047450 CA942569 |
207 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942570 rs575782598 |
208 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356227495 CA341028229 |
208 | Q>R | No |
ClinGen gnomAD |
|
|
CA942590 rs752593753 |
209 | G>D | No |
ClinGen ExAC TOPMed |
|
|
CA942571 rs781420431 |
209 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA942591 rs752593753 |
209 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs746068476 CA942593 |
210 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs756337261 CA942594 |
211 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA942595 rs780276461 |
212 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA942596 rs749611563 |
213 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942597 rs151113152 |
213 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341028280 rs1477548745 |
215 | Q>* | No |
ClinGen TOPMed |
|
|
CA942598 rs150239430 COSM1627238 |
218 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA942599 rs201242116 |
219 | F>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs994457968 CA26592813 |
220 | P>S | No |
ClinGen Ensembl |
|
|
CA341028328 rs1183010440 |
222 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1261117639 CA341028344 |
224 | I>V | No |
ClinGen TOPMed |
|
|
rs149539381 CA26592824 |
226 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA942603 rs200306309 |
226 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341028359 rs200306309 |
226 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA942605 rs759351927 |
227 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765186147 CA942606 |
229 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942608 rs961339806 |
231 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA942607 rs374217096 COSM913027 |
231 | R>W | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341028394 rs1313872070 |
232 | K>R | No |
ClinGen gnomAD |
|
|
rs1353932563 CA341028405 |
233 | C>* | No |
ClinGen gnomAD |
|
|
rs758304452 CA942610 |
234 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341028415 rs546609836 |
235 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546609836 CA942612 |
235 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs990626640 COSM358161 CA341028428 |
237 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA26592852 rs990626640 |
237 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA942614 rs780373179 |
238 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199555552 CA942613 |
238 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA942615 rs754071669 |
240 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs913274614 CA26592861 |
240 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341028450 rs1570469387 |
241 | N>S | No |
ClinGen Ensembl |
|
|
rs755332233 CA942616 |
242 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA341028473 rs1379698948 |
244 | D>A | No |
ClinGen gnomAD |
|
|
CA341028475 rs1379698948 |
244 | D>V | No |
ClinGen gnomAD |
|
|
rs779185246 CA942617 |
245 | L>F | No |
ClinGen ExAC |
|
|
CA942618 rs748668641 |
245 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942621 rs746439861 |
248 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368272460 CA942620 |
248 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770582057 CA942622 |
249 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341028507 rs1448528526 |
250 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA341028522 rs1379612946 |
252 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs116333431 CA942623 |
254 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341028541 rs1316467689 |
255 | K>E | No |
ClinGen TOPMed |
|
|
rs1234439406 CA341028550 |
256 | Q>* | No |
ClinGen TOPMed |
|
|
CA341028572 rs368045971 |
259 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368045971 CA341028573 |
259 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368045971 CA942625 |
259 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs976021477 CA26592895 |
260 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA341028582 rs1336022842 |
261 | F>L | No |
ClinGen TOPMed |
|
|
rs775196023 CA942627 |
262 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762826735 CA942628 |
263 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341028604 rs1232545097 |
264 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA942630 rs751517164 |
265 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA942631 rs374131048 |
265 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180235688 CA341028617 |
266 | N>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 267 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341028651 rs1412672658 |
270 | S>F | No |
ClinGen gnomAD |
|
|
CA942633 rs534676442 |
272 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs534676442 CA26592916 |
272 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA26592920 rs756699084 |
272 | I>T | No |
ClinGen Ensembl |
|
|
rs1184285602 CA341028680 |
273 | F>S | No |
ClinGen TOPMed |
|
|
rs755242367 CA942635 |
274 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1456666773 CA341028695 |
274 | T>I | No |
ClinGen TOPMed |
|
|
rs1328803362 CA341028702 |
275 | H>L | No |
ClinGen gnomAD |
|
|
rs779220740 CA942636 |
275 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341028713 rs1405015458 |
276 | A>S | No |
ClinGen Ensembl |
|
|
CA26592928 rs780402111 |
277 | R>T | No |
ClinGen Ensembl |
|
|
rs4582772 VAR_037750 CA942638 |
278 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA942642 rs770565352 |
280 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373470498 CA341028772 |
280 | T>I | No |
ClinGen TOPMed |
|
|
CA341028789 rs1375864531 |
282 | R>M | No |
ClinGen TOPMed |
|
|
rs904504887 CA26592934 |
282 | R>W | No |
ClinGen TOPMed |
|
|
CA341028802 rs1326411856 |
283 | E>G | No |
ClinGen TOPMed |
|
|
rs1197180502 CA341028844 |
286 | T>I | No |
ClinGen gnomAD |
|
|
CA942643 rs780886178 |
288 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA942644 rs745488852 |
291 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201481907 CA942659 |
294 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341029200 rs1321718515 |
294 | T>I | No |
ClinGen TOPMed |
|
|
rs544988087 CA341029211 |
296 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341029207 rs1424230970 |
296 | A>T | No |
ClinGen TOPMed |
|
|
rs544988087 CA942660 |
296 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341029214 rs1383036930 |
297 | V>M | No |
ClinGen gnomAD |
|
|
CA341029232 rs181179151 |
300 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA942662 rs181179151 |
300 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 301 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381017072 CA341029237 |
301 | E>K | No |
ClinGen gnomAD |
|
|
CA942663 rs149793418 |
302 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA942664 rs749026517 |
305 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs542705939 CA942666 |
306 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA942668 rs771958210 |
309 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA341029292 rs1288250403 |
309 | P>L | No |
ClinGen gnomAD |
|
|
rs1395148029 CA341029295 |
310 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375934542 CA942669 |
311 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203252285 CA341029324 |
314 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745775970 CA942671 |
315 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341029340 rs1450968627 |
317 | T>P | No |
ClinGen gnomAD |
|
|
CA26593297 rs199839100 |
320 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs1287636141 CA341029359 |
320 | Q>R | No |
ClinGen TOPMed |
|
|
rs763280629 CA942673 |
321 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942674 rs530087862 |
321 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530087862 CA341029367 |
321 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763280629 CA341029364 |
321 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 323 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751920580 CA341029393 |
325 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs751920580 CA942676 |
325 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs751920580 CA942675 |
325 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750978838 CA942678 |
326 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA942681 rs369820127 |
327 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA942680 rs369820127 COSM1344775 |
327 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 328 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274202611 CA341029407 |
328 | Q>R | No |
ClinGen TOPMed |
|
|
CA341029411 rs1404364480 |
329 | R>G | No |
ClinGen TOPMed |
|
|
CA26593314 rs914928167 |
330 | A>T | No |
ClinGen gnomAD |
|
|
rs4658359 CA942682 VAR_037751 |
331 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA942684 rs747873546 |
332 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA341029437 rs1418162237 |
333 | Y>H | No |
ClinGen TOPMed |
|
|
rs771870156 CA942685 |
334 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942686 rs773123207 |
336 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747038217 CA942687 |
336 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA341029462 rs1374698693 |
336 | Q>L | No |
ClinGen gnomAD |
|
|
rs1256709018 CA341029466 |
337 | Q>* | No |
ClinGen gnomAD |
|
|
rs1256709018 CA341029464 |
337 | Q>K | No |
ClinGen gnomAD |
|
|
rs769735610 CA942688 |
337 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942690 rs762960570 |
338 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341029479 rs1460707120 |
339 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 340 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA942691 rs768956551 |
341 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768956551 CA942693 |
341 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239638494 CA341029493 |
341 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA341029498 rs1180426060 |
342 | V>M | No |
ClinGen gnomAD |
|
|
rs4658360 VAR_037752 CA942695 |
344 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4658360 CA341029511 |
344 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341029519 rs1405738207 |
345 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1191062304 CA341029517 |
345 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 346 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341029526 rs1466492418 |
346 | T>I | No |
ClinGen gnomAD |
|
|
CA26593338 rs377263707 |
347 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs141648455 CA341029537 |
348 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141648455 CA942696 |
348 | T>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341029541 rs1277745073 |
349 | L>F | No |
ClinGen TOPMed |
|
|
CA942698 rs753350364 |
351 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs371371251 CA942701 |
354 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM465066 CA942699 rs754452653 |
354 | D>N | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs146250255 CA26593360 |
355 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146250255 CA942705 |
355 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146250255 CA26593362 |
355 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA942703 VAR_037753 rs4658146 |
355 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA942706 rs746903552 |
357 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA942708 rs781019542 |
358 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA26593367 rs935773536 |
359 | C>Y | No |
ClinGen TOPMed |
|
|
rs749321004 CA942709 |
360 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26593370 rs1037788530 |
361 | R>T | No |
ClinGen TOPMed |
|
|
rs1194929638 CA341029619 |
362 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 363 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899208817 CA26593372 |
364 | I>T | No |
ClinGen gnomAD |
|
|
rs1425115985 CA341029634 |
364 | I>V | No |
ClinGen TOPMed |
|
|
rs774700060 CA942711 |
365 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942710 rs142548289 |
365 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762192155 CA942712 |
368 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs772532640 CA942713 |
369 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA942714 rs772532640 |
369 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341029672 rs766843536 |
370 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA942716 rs766843536 |
370 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA341029697 rs1294344213 |
373 | K>R | No |
ClinGen gnomAD |
|
|
CA341029701 rs1392894965 |
374 | D>N | No |
ClinGen gnomAD |
|
|
rs759076071 CA942718 |
375 | E>K | No |
ClinGen ExAC |
|
|
CA942719 rs764797477 |
376 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758099328 CA942721 COSM221624 |
378 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1553143305 CA341029745 |
379 | F>L | No |
ClinGen Ensembl |
|
|
rs777420335 CA942723 |
382 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA341029773 rs1305618117 |
383 | F>C | No |
ClinGen gnomAD |
|
|
rs1199187476 CA341029775 |
383 | F>L | No |
ClinGen TOPMed |
|
|
CA341029782 rs1265688410 CA341029783 |
384 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA942724 rs116475216 |
384 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376383791 CA942739 |
385 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321428474 CA341029807 |
386 | T>I | No |
ClinGen gnomAD |
|
|
CA341029819 rs1421618535 |
388 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA942741 rs762477460 |
388 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161152088 CA341029827 |
389 | N>S | No |
ClinGen gnomAD |
|
|
rs763731680 CA942742 |
390 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs763731680 CA341029834 |
390 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs531273768 CA942744 |
393 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1040099680 CA26593609 CA341029872 |
395 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1313945579 CA341029880 |
397 | Q>* | No |
ClinGen gnomAD |
|
|
CA942745 rs767281208 |
399 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA26593617 rs113138844 |
403 | V>I | No |
ClinGen gnomAD |
|
|
CA341029921 rs113138844 |
403 | V>L | No |
ClinGen gnomAD |
|
|
rs780162722 CA942750 |
406 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs780162722 CA341029943 |
406 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA942751 rs748171558 |
406 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78680245 CA942752 |
408 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1175533390 CA341029970 |
410 | L>F | No |
ClinGen gnomAD |
|
|
rs1006576056 CA26593626 |
410 | L>P | No |
ClinGen Ensembl |
|
|
CA341029978 rs1444326059 |
411 | N>S | No |
ClinGen TOPMed |
|
|
CA341029987 rs1407424681 |
412 | E>G | No |
ClinGen gnomAD |
|
|
rs778040669 CA942753 |
413 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1195288432 CA341030000 |
414 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA942754 rs747259408 |
416 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA341030025 rs1468056081 |
418 | M>T | No |
ClinGen gnomAD |
|
|
CA26593627 rs571463495 |
421 | I>N | No |
ClinGen 1000Genomes |
|
|
rs377052539 CA942756 |
422 | S>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA942757 rs746249258 |
423 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1220250370 CA341030081 |
426 | F>L | No |
ClinGen gnomAD |
|
|
COSM3419556 CA341030077 rs1372064874 |
426 | F>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341030087 rs1285767707 |
427 | S>C | No |
ClinGen gnomAD |
|
|
CA942759 rs113532469 RCV000897937 |
428 | V>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA341030099 rs1176379215 |
429 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA341030103 rs1259166759 |
430 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs868235498 CA26593642 |
431 | G>E | No |
ClinGen Ensembl |
|
|
rs566111153 CA942761 |
431 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA942762 rs774050207 |
432 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA26593643 rs201346130 |
433 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761413265 CA942763 |
434 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA942764 rs201186609 |
435 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26593648 rs149161305 |
436 | M>K | No |
ClinGen ESP gnomAD |
|
|
rs750194971 CA942765 |
436 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341030137 rs750194971 |
436 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151241468 CA942766 |
440 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341030180 rs1157185182 |
442 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA26593655 rs928081907 |
442 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 442 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138122124 CA942768 |
443 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766360544 CA942767 |
443 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758497962 CA942769 |
444 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 445 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142589232 CA26593665 |
446 | Y>C | No |
ClinGen ESP |
|
|
rs777752713 CA942770 |
446 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA942771 rs747228403 |
447 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs747228403 CA942772 |
447 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA341030221 COSM913031 rs1223503314 |
448 | Q>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA942773 rs555078891 |
449 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341030235 rs1341920987 |
450 | P>H | No |
ClinGen gnomAD |
|
|
CA341030240 rs1272592726 |
451 | R>K | No |
ClinGen gnomAD |
|
|
rs1014091920 CA26593674 |
453 | G>* | No |
ClinGen TOPMed |
|
|
CA942775 rs770161192 |
454 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749862782 CA942777 |
455 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs149263534 CA942776 |
455 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370611283 CA942795 |
456 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387742713 CA341030433 |
456 | A>T | No |
ClinGen gnomAD |
|
|
CA942797 rs183093116 |
459 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768996640 CA942798 |
461 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA341030553 rs1382059721 |
465 | E>G | No |
ClinGen gnomAD |
|
|
rs896702942 CA26594016 |
466 | S>T | No |
ClinGen Ensembl |
|
|
rs1245447295 CA341030574 |
467 | Q>* | No |
ClinGen TOPMed |
|
|
CA341030572 rs1245447295 |
467 | Q>E | No |
ClinGen TOPMed |
|
|
rs1241004135 CA341030584 |
468 | M>V | No |
ClinGen gnomAD |
|
|
rs367974925 CA942801 |
470 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116173091 CA942802 RCV000955733 |
471 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs116173091 CA942803 |
471 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA942804 rs372187705 |
472 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374041390 CA942805 |
472 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA942808 rs752698359 |
478 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA942807 rs765013533 |
478 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773230875 CA26594049 |
480 | A>S | No |
ClinGen TOPMed |
|
|
CA341030757 rs1557543893 |
481 | L>V | No |
ClinGen Ensembl |
|
|
rs1570472231 CA341030776 |
482 | T>I | No |
ClinGen Ensembl |
|
|
rs761789263 CA942809 |
483 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA942810 rs192088221 |
488 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA942812 rs756378827 |
489 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA942811 rs750615172 |
489 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs933953523 CA341030959 |
492 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs933953523 CA26594219 |
492 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA942829 rs199708308 |
492 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346050181 CA341031062 |
499 | E>D | No |
ClinGen gnomAD |
|
|
rs535092116 CA942831 |
502 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA942832 rs766521580 |
507 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA942833 rs754147567 |
510 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429090845 CA341031162 |
511 | E>K | No |
ClinGen TOPMed |
|
|
CA942837 rs758923564 |
515 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs561557169 CA26594235 |
515 | Q>H | No |
ClinGen Ensembl |
|
|
CA341031221 rs1197898163 |
519 | Q>E | No |
ClinGen gnomAD |
|
|
rs959460 CA341031232 |
520 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs959460 CA341031233 |
520 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs959460 VAR_037754 CA942838 |
520 | D>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1429506817 CA341031246 |
522 | S>C | No |
ClinGen gnomAD |
|
|
rs756837037 CA942840 |
523 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs115489421 CA942841 COSM281327 |
523 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA942842 rs115489421 |
523 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868057414 CA26594244 |
525 | E>K | No |
ClinGen Ensembl |
|
|
rs1367596572 CA341031278 |
527 | I>L | No |
ClinGen gnomAD |
|
|
rs1367596572 CA341031279 |
527 | I>V | No |
ClinGen gnomAD |
|
|
CA942843 rs769448402 |
528 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA341031301 rs1421228050 |
530 | L>P | No |
ClinGen TOPMed |
|
|
CA942844 rs775406848 |
532 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866609054 CA26594252 |
533 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 533 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749105411 CA942845 |
534 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA942846 rs768542180 |
535 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA341031342 rs1324297741 |
536 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 537 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774276116 CA942847 |
538 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA942848 rs760690058 |
539 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360994880 CA341031361 |
539 | E>G | No |
ClinGen gnomAD |
|
|
rs760690058 CA942849 |
539 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26594269 rs898808780 |
540 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA341031366 rs898808780 |
540 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776685842 CA942850 |
542 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA341031384 rs1486503771 |
543 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA942851 rs759848993 |
544 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341031388 rs1188638154 |
544 | E>K | No |
ClinGen gnomAD |
|
|
CA341031397 rs1184440581 |
545 | Q>* | No |
ClinGen gnomAD |
|
|
CA341031407 rs1261388008 |
546 | I>T | No |
ClinGen TOPMed |
|
|
rs758834885 CA942854 |
547 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA942855 rs764634474 |
548 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs752174052 CA942856 |
549 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 550 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369535516 CA942857 COSM1344776 |
552 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369535516 CA942858 |
552 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775584880 CA942871 |
555 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA942870 rs769988813 |
555 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763393073 CA942872 |
556 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1305518667 CA341032267 |
557 | N>S | No |
ClinGen gnomAD |
|
|
CA26594602 rs921377545 |
558 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 558 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341032320 rs1323154180 |
559 | W>* | No |
ClinGen TOPMed |
|
|
rs1224470653 CA341032299 |
559 | W>R | No |
ClinGen gnomAD |
|
|
rs1265440568 CA341032330 |
560 | L>V | No |
ClinGen gnomAD |
|
|
CA341032372 rs1209761733 |
561 | H>L | No |
ClinGen gnomAD |
|
|
rs186525899 CA942874 |
562 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA942875 rs775373620 |
563 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA942876 rs767934125 |
563 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA341032473 rs1472253328 |
565 | K>R | No |
ClinGen gnomAD |
|
|
CA341032493 rs1415872105 |
566 | K>E | No |
ClinGen TOPMed |
|
| rs755314330 | 567 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749909647 CA942878 |
568 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA942879 rs755586412 |
571 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1467846061 CA341032622 |
571 | M>T | No |
ClinGen gnomAD |
|
|
RCV000966128 CA942880 rs76159539 |
573 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1190343194 CA341032666 |
573 | A>V | No |
ClinGen TOPMed |
|
|
CA942881 rs753547729 |
575 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3764222 CA942883 rs150334552 |
580 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM198062 CA942885 rs772004170 |
580 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA942884 rs150334552 |
580 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745899042 CA942887 |
581 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77560722 CA942886 |
581 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1276778962 CA341032855 |
582 | I>T | No |
ClinGen TOPMed |
|
|
rs1218820025 CA341032876 |
583 | D>G | No |
ClinGen gnomAD |
|
|
rs1228536663 CA942888 |
585 | T>A | No |
ClinGen gnomAD |
|
|
CA341032920 rs1557544726 |
585 | T>K | No |
ClinGen Ensembl |
|
| rs1557544730 | 587 | N>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769819336 CA942891 |
588 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA26594643 rs868498894 |
588 | D>N | No |
ClinGen Ensembl |
|
|
rs199807341 CA26594650 |
589 | D>H | No |
ClinGen 1000Genomes |
|
|
CA942892 rs775853627 |
590 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA942894 rs769122235 |
593 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs147136300 CA26594657 |
593 | I>N | No |
ClinGen ESP gnomAD |
|
|
CA341033071 rs1476929493 |
594 | A>V | No |
ClinGen gnomAD |
|
|
rs200762631 CA942896 |
595 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411352004 CA341033086 |
595 | R>L | No |
ClinGen gnomAD |
|
|
CA942898 rs144066091 |
596 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341033132 rs1305512307 |
598 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs115680766 CA942899 |
598 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765846766 CA942900 |
599 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1271190742 CA341033150 |
600 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1271190742 CA341033147 |
600 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA942901 rs148760203 |
601 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142400726 CA26594667 |
602 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142400726 CA942903 |
602 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA26594681 rs999892651 |
603 | E>A | No |
ClinGen Ensembl |
|
|
rs752419038 CA942904 |
605 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 607 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341033261 rs1200981974 |
607 | I>V | No |
ClinGen gnomAD |
|
|
CA341033310 rs758138994 |
608 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341033287 rs1293894812 |
608 | L>S | No |
ClinGen gnomAD |
|
|
rs1197874793 CA341033333 |
610 | A>T | No |
ClinGen gnomAD |
|
|
CA942906 rs777749143 |
615 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs756191642 CA942908 |
616 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA942907 rs189700583 |
616 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA26594689 rs756191642 |
616 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 618 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341033499 rs1461098915 |
618 | G>V | No |
ClinGen gnomAD |
|
|
rs1243707408 CA341033557 |
621 | G>D | No |
ClinGen TOPMed |
|
|
rs1164978816 CA341033591 |
623 | S>N | No |
ClinGen gnomAD |
|
|
rs749404900 CA942910 |
624 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs768962709 CA942911 |
625 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1319388601 CA341033647 |
625 | L>R | No |
ClinGen gnomAD |
|
|
rs1347325557 CA341033658 |
626 | F>C | No |
ClinGen gnomAD |
|
|
CA341033717 rs1428828112 |
628 | K>R | No |
ClinGen gnomAD |
|
|
CA942914 rs772378261 |
629 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748489019 CA341033728 |
629 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA341033737 rs772378261 |
629 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748489019 CA942913 |
629 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA341033786 rs1235932981 |
631 | L>P | No |
ClinGen TOPMed |
|
|
CA341033840 rs773765161 |
634 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6ZN66
4 regional properties for Q6ZN66
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Guanylate-binding protein/Atlastin, C-terminal | 283 - 579 | IPR003191 |
| domain | Guanylate-binding protein, N-terminal | 18 - 280 | IPR015894 |
| domain | GB1/RHD3-type guanine nucleotide-binding (G) domain | 35 - 277 | IPR030386 |
| domain | Guanylate-binding protein, C-terminal | 289 - 579 | IPR037684 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to interferon-gamma | 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 an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| defense response to Gram-positive bacterium | Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism. |
| defense response to protozoan | Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESGPKMLAP | VCLVENNNEQ | LLVNQQAIQI | LEKISQPVVV | VAIVGLYRTG | KSYLMNHLAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QNHGFPLGST | VQSETKGIWM | WCVPHPSKPN | HTLVLLDTEG | LGDVEKGDPK | NDSWIFALAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLCSTFVYNS | MSTINHQALE | QLHYVTELTE | LIKAKSSPRP | DGVEDSTEFV | SFFPDFLWTV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RDFTLELKLN | GHPITEDEYL | ENALKLIQGN | NPRVQTSNFP | RECIRRFFPK | RKCFVFDRPT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NDKDLLANIE | KVSEKQLDPK | FQEQTNIFCS | YIFTHARTKT | LREGITVTGN | RLGTLAVTYV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAINSGAVPC | LENAVITLAQ | RENSAAVQRA | ADYYSQQMAQ | RVKLPTDTLQ | ELLDMHAACE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| REAIAIFMEH | SFKDENQEFQ | KKFMETTMNK | KGDFLLQNEE | SSVQYCQAKL | NELSKGLMES |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ISAGSFSVPG | GHKLYMETKE | RIEQDYWQVP | RKGVKAKEVF | QRFLESQMVI | EESILQSDKA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTDREKAVAV | DRAKKEAAEK | EQELLKQKLQ | EQQQQMEAQD | KSRKENIAQL | KEKLQMEREH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LLREQIMMLE | HTQKVQNDWL | HEGFKKKYEE | MNAEISQFKR | MIDTTKNDDT | PWIARTLDNL |
| 610 | 620 | 630 | |||
| ADELTAILSA | PAKLIGHGVK | GVSSLFKKHK | LPF |