Q8N1M1
SS
Gene name |
BEST3 (VMD2L3) |
Protein name |
Bestrophin-3 |
Names |
Vitelliform macular dystrophy 2-like protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:144453 |
EC number |
|
Protein Class |
|
Descriptions
Best3, a member of the bestrophin Cl- channel family, is a candidate of cGMP-sensitive, Ca2+-activated Cl- channel in vascular smooth muscle cells. Best3 has an autoinhibitory domain (356-362) and deletion of the domain robustly activates Best3 channel. <br>Best3 also has a C-terminal membrane association domain (368-383) and basic residue domain (384-397). The basic residue domain (384–397) is also partially involved in the membrane association. Dissociation of Best3 from membrane activates Best3.
Autoinhibitory domains (AIDs)
Target domain |
1-486 (Bestrophin) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
1-486 (Bestrophin) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N1M1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N1M1-F1 | Predicted | AlphaFoldDB |
525 variants for Q8N1M1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs754447452 CA6681750 |
2 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA605774625 rs1334668762 |
5 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385718917 rs1326219222 |
7 | S>N | No |
ClinGen gnomAD |
|
|
CA6681747 rs758055838 |
10 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779480082 CA6681748 |
10 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750047522 CA6681746 |
11 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1367194807 CA385718312 |
12 | A>V | No |
ClinGen gnomAD |
|
|
CA6681745 rs764495281 |
13 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6681743 rs761141824 |
14 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs753214336 CA385718237 |
17 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753214336 CA6681742 |
17 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385718209 rs1268495052 |
19 | R>G | No |
ClinGen gnomAD |
|
|
rs760007296 CA6681740 |
19 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760007296 CA6681741 |
19 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA239121850 rs375523642 |
20 | L>S | No |
ClinGen ESP TOPMed |
|
|
rs774472733 CA6681739 |
21 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6681737 rs372270071 |
23 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385718133 rs1271592619 |
24 | W>R | No |
ClinGen TOPMed |
|
|
rs368269235 CA6681736 |
25 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385718091 rs1277298254 |
26 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs769533196 CA6681735 |
27 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA385718063 rs1190327772 |
28 | I>S | No |
ClinGen gnomAD |
|
|
CA6681734 rs747970398 |
28 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6681733 rs147520920 |
29 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA239121849 rs1045998592 |
30 | K>R | No |
ClinGen gnomAD |
|
|
rs1181119248 CA385718005 |
32 | L>P | No |
ClinGen TOPMed |
|
|
CA6681731 rs746977484 |
33 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1400060143 CA385717977 |
34 | R>K | No |
ClinGen gnomAD |
|
|
rs779549050 CA6681730 |
34 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1592382361 CA385717955 |
35 | E>G | No |
ClinGen Ensembl |
|
|
CA6681728 rs757859038 |
36 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1197615875 CA385717921 |
37 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1428665664 CA385717928 |
37 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769602939 CA239121848 |
38 | V>A | No |
ClinGen gnomAD |
|
|
rs757008491 CA6681725 |
40 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1326380921 COSM256396 CA385717867 |
40 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs753085945 CA6681724 |
41 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753085945 CA385717862 |
41 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752015452 CA6681720 |
43 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1025016 CA6681721 VAR_048409 |
43 | Y>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs766428335 CA6681719 |
46 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385717820 rs1429818186 |
47 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1429818186 CA385717819 |
47 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA239121847 rs544018239 |
48 | L>F | No |
ClinGen 1000Genomes |
|
|
rs1324444230 CA385717799 |
48 | L>S | No |
ClinGen gnomAD |
|
|
CA6681718 rs762968347 |
49 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs762072364 CA6681715 |
51 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444591257 CA385716821 |
51 | R>S | No |
ClinGen gnomAD |
|
|
CA239121309 rs929912229 |
53 | L>* | No |
ClinGen TOPMed |
|
|
CA6681694 rs776843316 |
55 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681693 rs763900208 |
57 | V>A | No |
ClinGen ExAC |
|
|
CA385716694 rs1388170914 |
59 | K>N | No |
ClinGen TOPMed |
|
|
rs910941837 CA239121303 |
60 | R>C | No |
ClinGen TOPMed |
|
|
CA6681690 rs371263106 |
60 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385716677 rs371263106 |
60 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775394463 CA6681689 |
61 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771878919 CA6681688 |
62 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6681684 rs748895193 |
67 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs377612646 CA6681685 |
67 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1592379158 CA385716540 |
68 | Y>C | No |
ClinGen Ensembl |
|
|
CA6681683 rs777317797 |
69 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA239121292 rs879052136 |
71 | R>T | No |
ClinGen Ensembl |
|
|
CA385716448 rs1592379124 |
73 | A>V | No |
ClinGen Ensembl |
|
|
CA385716344 rs1275772962 |
78 | V>I | No |
ClinGen TOPMed |
|
|
CA6681682 rs755331841 |
79 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA239121288 rs1017742903 |
81 | V>L | No |
ClinGen Ensembl |
|
|
rs372259045 CA6681664 |
85 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372259045 CA6681663 |
85 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772431485 CA6681662 |
91 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs200108910 CA6681661 |
91 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681660 rs779427217 |
92 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774837432 CA6681659 |
92 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA239121187 rs867112476 |
93 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA239121184 rs992854532 |
93 | W>* | No |
ClinGen TOPMed |
|
|
CA385715763 rs867112476 |
93 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777964625 CA6681657 |
93 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs753838532 CA6681658 |
93 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA239121185 rs201608960 |
94 | W>R | No |
ClinGen Ensembl |
|
|
rs756283973 CA6681655 |
97 | F>L | No |
ClinGen ExAC |
|
|
rs375880022 CA6681653 |
99 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253565743 CA385715458 |
100 | L>F | No |
ClinGen TOPMed |
|
|
rs759429996 CA6681651 |
101 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759429996 CA6681652 |
101 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681650 rs558643890 |
102 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs188063237 CA6681648 |
103 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs188063237 CA6681649 |
103 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA239121181 rs147574860 |
104 | D>E | No |
ClinGen 1000Genomes |
|
|
rs772585100 CA6681647 |
106 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA385715241 rs1287704485 |
107 | M>I | No |
ClinGen gnomAD |
|
|
CA6681646 rs572926641 |
107 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385715183 rs1244426533 |
109 | L>V | No |
ClinGen TOPMed |
|
|
rs1462188601 CA385715091 |
111 | S>F | No |
ClinGen gnomAD |
|
|
CA385715046 rs1437824391 |
113 | S>R | No |
ClinGen gnomAD |
|
|
CA6681645 rs761306542 |
114 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239121178 rs1017263270 |
116 | G>E | No |
ClinGen TOPMed |
|
|
rs776360679 CA6681644 |
116 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681642 rs746200007 |
117 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681641 rs779297098 |
117 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681639 rs749870577 |
118 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs143236582 CA6681640 |
118 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385714894 rs1466151929 |
119 | E>D | No |
ClinGen gnomAD |
|
|
CA6681637 rs200468878 |
119 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200468878 CA6681638 |
119 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385714870 rs1203159181 |
121 | G>R | No |
ClinGen gnomAD |
|
|
CA6681636 rs752810197 COSM3384594 COSM3384596 COSM3384595 |
122 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6681633 rs751380909 |
125 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385714769 rs1231289265 |
125 | R>S | No |
ClinGen gnomAD |
|
|
CA6681632 rs766338045 |
127 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750381379 CA6681630 |
128 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681629 rs764594536 |
129 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA385714654 rs1177749428 |
129 | M>V | No |
ClinGen gnomAD |
|
|
rs1466171439 COSM1579476 CA385714619 |
130 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1466171439 CA385714620 |
130 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs935219987 CA239121168 |
130 | R>H | No |
ClinGen gnomAD |
|
|
CA385714622 rs1466171439 |
130 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6681625 rs557555930 |
132 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs117505973 CA6681626 |
132 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385714570 rs117505973 |
132 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385714535 rs1390765541 |
133 | N>D | No |
ClinGen gnomAD |
|
|
CA385714545 rs1390765541 |
133 | N>H | No |
ClinGen gnomAD |
|
|
CA6681624 rs760377519 |
133 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774690380 CA385714504 |
134 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6681623 rs774690380 |
134 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385714435 rs1480403476 |
136 | S>F | No |
ClinGen gnomAD |
|
|
rs1592378151 CA385714412 |
137 | L>Q | No |
ClinGen Ensembl |
|
|
CA385714378 rs1343289750 |
139 | I>N | No |
ClinGen gnomAD |
|
|
rs748231464 CA239121153 |
141 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748231464 CA385714310 |
141 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681617 rs781472959 |
141 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs748231464 CA6681618 |
141 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145121600 CA6681615 |
142 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755241147 CA6681616 |
142 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs145121600 CA385714248 |
142 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6681612 rs778208132 |
145 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1453068668 CA385714104 |
147 | V>A | No |
ClinGen TOPMed |
|
|
CA385714111 rs1431462677 |
147 | V>L | No |
ClinGen gnomAD |
|
|
rs765189718 CA6681611 |
150 | R>S | No |
ClinGen ExAC |
|
|
rs149949010 CA6681609 |
153 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681607 rs763658617 |
158 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1383831623 CA385713154 |
160 | A>T | No |
ClinGen TOPMed |
|
|
rs746143688 CA6681572 |
161 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA385738578 rs1405262438 |
163 | M>I | No |
ClinGen TOPMed |
|
|
CA239167272 rs897797282 |
163 | M>T | No |
ClinGen TOPMed |
|
|
CA385738551 rs1449610935 |
165 | T>P | No |
ClinGen gnomAD |
|
|
CA6681569 rs773455277 |
168 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs540664819 CA6681567 |
174 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6681568 rs540664819 |
174 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752183890 CA385738012 |
181 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385737978 rs1307585220 |
182 | W>* | No |
ClinGen TOPMed |
|
|
CA239167237 rs1008022533 |
182 | W>* | No |
ClinGen Ensembl |
|
|
CA385737991 rs1204224860 |
182 | W>R | No |
ClinGen gnomAD |
|
|
CA385737924 rs1339776908 |
185 | F>L | No |
ClinGen gnomAD |
|
|
rs780627201 CA6681565 |
186 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681563 rs751180068 |
187 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385737838 rs751180068 |
187 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681564 rs758403081 |
187 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681562 rs573620825 |
188 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385737789 rs1328413108 |
189 | G>* | No |
ClinGen gnomAD |
|
|
CA6681561 rs754359170 |
189 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6681560 rs754359170 |
189 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6681559 rs764666923 |
191 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6681558 rs761321468 |
194 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1413083121 CA385737625 |
195 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750885648 CA6681555 |
196 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201055197 CA6681557 |
196 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385737551 rs1473474811 |
197 | N>D | No |
ClinGen gnomAD |
|
|
CA385737329 rs1250550070 |
205 | V>A | No |
ClinGen TOPMed |
|
|
CA385737298 rs770670327 |
207 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs749049161 CA6681552 |
209 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs199554316 CA6681550 |
211 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276438923 CA385737218 |
211 | M>L | No |
ClinGen gnomAD |
|
|
rs377359402 CA6681527 |
214 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681528 rs779761425 |
214 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681526 rs745517606 |
216 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs372783693 CA6681525 |
216 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556546964 CA6681524 |
217 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753205163 CA6681523 |
218 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681522 rs767876879 |
218 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681521 rs755555260 |
220 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs751581328 CA6681520 |
221 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766515260 CA6681519 |
226 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480791639 CA385735603 |
231 | G>A | No |
ClinGen TOPMed |
|
|
COSM943047 CA6681515 rs140310153 |
233 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA6681516 rs140310153 |
233 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6681517 rs763098809 |
233 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6681513 rs776531139 |
234 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747033835 CA6681511 |
237 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs375603707 CA6681510 |
238 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289094635 CA385735501 |
238 | Q>H | No |
ClinGen gnomAD |
|
|
CA385735432 rs1295608704 |
239 | V>F | No |
ClinGen gnomAD |
|
|
CA385735416 rs1395120038 |
240 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385735412 rs1395120038 |
240 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs753563227 CA6681494 |
241 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA385735377 rs763952985 |
241 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681493 rs763952985 |
241 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385735342 rs1435164112 |
243 | A>D | No |
ClinGen gnomAD |
|
|
CA239165795 rs368113693 |
243 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA6681492 rs760469467 |
245 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771667441 CA6681490 COSM1237312 |
249 | F>L | parathyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6681489 rs374833609 |
250 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1317970 CA6681487 rs199594674 |
251 | C>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1182663040 CA385735110 |
253 | I>F | No |
ClinGen gnomAD |
|
|
CA385735061 rs1338087756 |
254 | G>E | No |
ClinGen TOPMed |
|
|
COSM243193 CA6681486 rs200668742 |
255 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA385735026 rs200668742 |
255 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6681485 rs368490759 |
255 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769082184 CA6681484 |
257 | F>L | No |
ClinGen ExAC |
|
|
CA6681483 rs374461067 |
257 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1004584936 CA239165714 |
259 | D>H | No |
ClinGen TOPMed |
|
|
CA385734841 rs568405722 |
260 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs568405722 CA239165703 |
260 | P>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA385734769 rs1249896160 |
263 | G>V | No |
ClinGen TOPMed |
|
|
rs114061225 CA385734745 |
265 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6681480 rs114061225 |
265 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349665885 CA385734737 |
266 | G>R | No |
ClinGen gnomAD |
|
|
CA6681479 rs750482090 |
268 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA385734698 rs1565833869 |
268 | D>G | No |
ClinGen Ensembl |
|
|
rs1397187418 CA385734673 |
269 | L>F | No |
ClinGen gnomAD |
|
|
CA385734683 rs1441417556 |
269 | L>W | No |
ClinGen TOPMed |
|
|
rs1027883495 CA239165672 |
273 | I>L | No |
ClinGen TOPMed |
|
|
rs754102676 CA6681476 |
277 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA385734555 rs1592351926 |
277 | T>P | No |
ClinGen Ensembl |
|
|
rs763747167 CA6681475 |
278 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250100870 CA385734515 |
280 | Q>* | No |
ClinGen gnomAD |
|
|
CA239165625 rs1009357030 |
280 | Q>R | No |
ClinGen TOPMed |
|
|
CA239165621 COSM194713 rs745673258 |
281 | F>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1298210735 CA385734478 |
282 | F>V | No |
ClinGen TOPMed |
|
|
CA6681474 rs760549863 |
283 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752576624 CA6681473 |
283 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs767536005 CA6681472 |
284 | Y>S | No |
ClinGen ExAC |
|
|
CA385734422 rs1267334049 |
285 | A>S | No |
ClinGen gnomAD |
|
|
rs759601669 CA6681470 |
287 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433726728 CA385733488 |
292 | E>K | No |
ClinGen TOPMed |
|
|
CA6681448 rs764921549 |
297 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1376821915 CA385733443 |
298 | F>S | No |
ClinGen TOPMed |
|
|
CA239162558 rs866576996 |
299 | G>E | No |
ClinGen Ensembl |
|
|
rs766243934 CA239162557 |
301 | D>H | No |
ClinGen gnomAD |
|
|
rs190084143 CA6681447 |
303 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1479196212 CA385733399 |
304 | D>G | No |
ClinGen gnomAD |
|
|
rs1396269742 CA385733385 |
306 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs896897636 CA239162521 |
307 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385733368 rs1448352267 |
308 | N>K | No |
ClinGen gnomAD |
|
|
rs941132909 CA239162520 |
315 | L>F | No |
ClinGen TOPMed |
|
|
CA6681444 rs775829530 |
315 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385733009 rs1184959448 |
317 | V>F | No |
ClinGen gnomAD |
|
|
CA385732966 rs1486533635 |
318 | S>F | No |
ClinGen gnomAD |
|
|
CA385732953 rs1355207596 |
319 | L>F | No |
ClinGen TOPMed |
|
|
rs761391404 CA6681426 |
324 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385732738 rs1204378220 |
327 | M>T | No |
ClinGen gnomAD |
|
|
CA385732719 rs1339928909 |
328 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385732715 rs1339928909 |
328 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767827759 CA6681424 |
329 | L>S | No |
ClinGen ExAC |
|
|
rs184752299 CA6681422 |
330 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6681423 rs759862630 |
330 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA385732626 rs1163216121 |
331 | K>R | No |
ClinGen TOPMed |
|
|
CA6681420 rs375735472 |
332 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771452110 CA6681421 |
332 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239161489 rs1021302958 |
338 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1372994387 CA385732426 |
338 | W>R | No |
ClinGen gnomAD |
|
|
rs781599639 CA6681415 |
340 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781599639 CA239161488 |
340 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681412 rs779770948 |
344 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6681411 rs758352366 |
344 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA605785414 rs1234597007 |
347 | Y>* | No |
ClinGen gnomAD |
|
|
CA6681408 rs753386089 |
349 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753386089 CA6681407 |
349 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201285930 CA385732191 |
351 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201285930 CA6681406 |
351 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1381275231 CA385732090 |
355 | C>Y | No |
ClinGen gnomAD |
|
|
rs766654723 CA6681403 |
363 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6681401 rs61928092 |
365 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385731856 rs1320970395 |
366 | M>T | No |
ClinGen gnomAD |
|
|
CA385731835 rs1462531581 |
367 | G>R | No |
ClinGen gnomAD |
|
|
CA385731831 rs1462531581 |
367 | G>W | No |
ClinGen gnomAD |
|
|
CA385727622 rs1415138352 |
368 | L>R | No |
ClinGen gnomAD |
|
|
rs770850354 CA385727615 |
369 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296370764 CA385727604 |
369 | S>F | No |
ClinGen gnomAD |
|
|
CA6681373 rs770850354 |
369 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385727572 rs755600738 |
372 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755600738 CA6681370 |
372 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681369 rs747799370 |
374 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367607821 CA239151952 |
375 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681368 rs780678486 |
375 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750804238 CA6681366 |
376 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1250328395 CA385727464 |
376 | E>K | No |
ClinGen gnomAD |
|
|
CA385727461 rs1250328395 |
376 | E>Q | No |
ClinGen gnomAD |
|
|
CA6681365 rs531692170 |
377 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385727408 rs1251338811 |
378 | W>* | No |
ClinGen gnomAD |
|
|
rs75364232 CA6681363 |
380 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA6681361 rs200722332 |
381 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs200722332 CA6681362 |
381 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs199507753 CA6681359 |
382 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199507753 CA6681358 |
382 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs895143672 CA239151880 |
383 | E>K | No |
ClinGen Ensembl |
|
|
CA6681353 rs773052558 |
385 | H>Q | No |
ClinGen ExAC |
|
|
CA6681355 rs375857714 |
385 | H>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs770725450 CA6681356 |
385 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1397339560 CA385727128 |
386 | G>D | No |
ClinGen gnomAD |
|
|
rs769812693 CA6681352 |
386 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs754587392 CA6681349 |
387 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6681350 rs372180657 |
387 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385727101 rs1459917540 |
387 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM1184669 rs368951490 CA6681347 |
388 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1184671 CA6681348 rs770709086 |
388 | R>W | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1235864660 CA385726947 |
391 | M>I | No |
ClinGen TOPMed |
|
|
CA385726968 rs1420164913 |
391 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6681345 rs754291907 |
392 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs1316871858 CA385726877 |
395 | V>A | No |
ClinGen TOPMed |
|
|
rs756698970 CA385726845 |
397 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756698970 CA6681342 |
397 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924045625 CA239151846 |
397 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA385726817 rs1213856589 |
399 | L>P | No |
ClinGen gnomAD |
|
|
rs752710330 CA6681341 |
400 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA385726734 rs115474368 |
402 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385726759 rs1240879169 |
402 | H>Y | No |
ClinGen gnomAD |
|
|
rs759695233 CA6681339 |
403 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385726689 rs1593132679 |
404 | H>P | No |
ClinGen Ensembl |
|
|
CA6681338 rs199776780 |
404 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385726696 rs1593132687 |
404 | H>Y | No |
ClinGen Ensembl |
|
|
CA6681336 rs762707351 |
406 | S>T | No |
ClinGen ExAC |
|
|
CA385726623 rs1405642034 |
407 | S>R | No |
ClinGen TOPMed |
|
|
CA6681335 rs773110196 |
408 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6681333 rs761876753 |
410 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239151744 rs868539267 |
411 | R>S | No |
ClinGen TOPMed |
|
|
CA385726481 rs1160699167 |
412 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6681332 rs775940932 |
412 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385726492 rs1160699167 |
412 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1377615416 CA385726325 |
417 | T>I | No |
ClinGen gnomAD |
|
|
CA385726318 rs979888196 |
418 | S>G | No |
ClinGen TOPMed |
|
|
CA239151731 rs979888196 |
418 | S>R | No |
ClinGen TOPMed |
|
|
CA385726269 rs768298751 |
419 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs768298751 CA6681331 |
419 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1392520627 CA385726238 |
420 | S>N | No |
ClinGen TOPMed |
|
|
rs868402513 CA239151719 |
421 | S>F | No |
ClinGen Ensembl |
|
|
rs1193909997 CA385726173 |
422 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs373927282 CA6681329 |
422 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373927282 CA6681330 |
422 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6681327 rs749600571 |
425 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681328 rs749600571 |
425 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681326 rs200350539 |
426 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681325 rs756507092 |
426 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376032270 CA6681324 |
427 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681322 rs755080649 |
431 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA385725970 rs1304208915 |
434 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1606570 rs560586882 CA6681321 |
435 | L>I | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA385725946 rs1480268415 |
436 | L>R | No |
ClinGen TOPMed |
|
|
rs750181711 CA6681318 |
437 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs750181711 CA385725936 |
437 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA385725902 rs1383195606 |
440 | S>* | No |
ClinGen gnomAD |
|
|
CA385725900 rs1383195606 |
440 | S>* | No |
ClinGen gnomAD |
|
|
CA6681316 rs558239407 |
442 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385725875 rs1593132364 |
442 | N>T | No |
ClinGen Ensembl |
|
|
CA6681313 rs200473792 |
443 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6681315 rs200473792 |
443 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200473792 CA6681314 |
443 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6681310 rs745535088 |
444 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745535088 CA385725845 |
444 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771842866 CA6681311 |
444 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770215643 CA6681307 |
446 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6681306 rs748561508 |
449 | T>I | No |
ClinGen ExAC |
|
|
CA6681305 rs781640383 |
454 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751627269 CA6681303 |
455 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs374103526 CA6681302 |
459 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385725610 rs545255599 |
459 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1209262690 CA385725602 |
460 | P>T | No |
ClinGen TOPMed |
|
|
CA6681300 rs750674581 |
461 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385725538 rs1228357696 |
463 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA385725514 rs1340274179 |
463 | H>Q | No |
ClinGen gnomAD |
|
|
rs1228357696 CA385725535 |
463 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6681298 rs757108999 |
467 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1357577454 CA385725422 |
468 | E>D | No |
ClinGen TOPMed |
|
|
CA6681297 rs753618473 |
468 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764106977 CA6681296 |
468 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6681295 rs760758983 |
471 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272365277 CA385725371 |
473 | R>G | No |
ClinGen TOPMed |
|
|
rs1167369147 CA385725349 |
474 | E>G | No |
ClinGen gnomAD |
|
|
rs775069920 CA6681294 |
474 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767145478 CA6681293 |
477 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6681292 rs759060469 |
478 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1416678852 CA385725258 |
479 | S>I | No |
ClinGen gnomAD |
|
|
rs1416678852 CA385725254 |
479 | S>T | No |
ClinGen gnomAD |
|
|
rs1185597868 CA385725241 |
480 | T>A | No |
ClinGen gnomAD |
|
|
rs17852492 CA6681291 |
482 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681290 rs377113547 |
482 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748521589 CA6681289 |
483 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6681288 rs777039455 |
483 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6681287 rs769149024 |
484 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385725132 rs747520251 |
485 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681286 rs747520251 |
485 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780051341 CA6681284 |
489 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1186930882 CA385725058 |
490 | V>L | No |
ClinGen TOPMed |
|
|
rs1007622675 CA239151502 |
492 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA239151501 rs944160598 |
494 | P>L | No |
ClinGen gnomAD |
|
|
rs1440582426 CA385724888 |
500 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385724884 rs1440582426 |
500 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385724899 rs746039339 |
500 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746039339 CA6681282 |
500 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6681281 rs144259037 |
501 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757476199 CA385724853 |
502 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs757476199 CA6681280 |
502 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6681279 rs753679158 |
503 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA239151472 rs867314908 |
503 | V>I | No |
ClinGen gnomAD |
|
|
rs374914039 CA385724792 |
504 | L>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA239151466 rs374914039 |
504 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1565820765 CA385724773 |
505 | I>V | No |
ClinGen Ensembl |
|
|
CA6681277 rs756054961 |
506 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA385724728 rs1171934394 |
507 | A>T | No |
ClinGen TOPMed |
|
|
CA239151451 rs891670208 |
509 | E>A | No |
ClinGen TOPMed |
|
|
COSM1283654 rs759773937 CA6681275 |
509 | E>K | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA239151430 rs974311357 |
512 | V>L | No |
ClinGen Ensembl |
|
|
rs1429084133 CA385724618 |
513 | P>T | No |
ClinGen TOPMed |
|
|
CA385724575 rs1271509705 |
514 | T>I | No |
ClinGen gnomAD |
|
|
CA6681272 rs773780993 |
517 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6681271 rs766043596 |
519 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1644429 rs1280639376 CA385724421 |
520 | H>Y | salivary_gland [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs762581678 CA6681270 |
521 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385724383 rs1216351858 |
521 | D>G | No |
ClinGen TOPMed |
|
|
rs747469465 CA6681267 |
523 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747469465 CA6681268 |
523 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462650288 CA385724312 |
524 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385724314 rs1462650288 |
524 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA239151408 rs981210975 |
525 | S>A | No |
ClinGen Ensembl |
|
|
CA385724291 rs1158167075 |
525 | S>C | No |
ClinGen gnomAD |
|
|
rs376818699 CA385724276 |
526 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681263 rs778923125 |
526 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745941868 CA6681264 |
526 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs376818699 CA6681265 |
526 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385724159 rs1475566165 |
532 | T>A | No |
ClinGen TOPMed |
|
|
CA239151378 rs1022782816 |
533 | G>A | No |
ClinGen Ensembl |
|
|
CA6681260 rs777657968 |
535 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1214169962 CA385724111 |
535 | Q>H | No |
ClinGen gnomAD |
|
|
rs190855464 CA6681259 |
535 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754927786 CA6681256 |
540 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1346553830 CA385724040 COSM1512912 |
540 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA385724019 rs1442430286 |
541 | Q>K | No |
ClinGen gnomAD |
|
|
CA6681254 rs372282208 |
542 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681253 rs765814077 |
542 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs556312540 CA239151340 |
542 | Q>L | No |
ClinGen gnomAD |
|
|
rs1565820536 CA385723951 |
544 | G>A | No |
ClinGen Ensembl |
|
|
rs762534826 CA6681252 |
545 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368270446 CA6681250 |
546 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399274491 CA385723919 |
546 | M>K | No |
ClinGen TOPMed |
|
|
rs750098709 CA6681251 |
546 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681249 rs760999117 |
547 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775884659 CA6681248 |
548 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1323966162 CA385723883 |
549 | I>L | No |
ClinGen TOPMed |
|
|
CA6681245 rs548120520 |
550 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs973709978 CA239151264 |
551 | S>P | No |
ClinGen TOPMed |
|
|
CA385723824 rs1243009423 |
553 | S>P | No |
ClinGen gnomAD |
|
|
CA6681244 rs770934497 |
557 | T>I | No |
ClinGen ExAC |
|
|
rs749480639 CA6681243 |
558 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA385723711 rs1210838602 |
558 | P>T | No |
ClinGen gnomAD |
|
|
rs770187501 CA6681241 |
562 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs373625348 CA6681239 |
563 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212383356 CA385723614 |
566 | T>A | No |
ClinGen gnomAD |
|
|
CA239151253 rs370511761 |
566 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385723605 rs370511761 |
566 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs140412369 CA6681236 |
571 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140412369 CA6681235 |
571 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748136001 CA239151205 |
573 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1314645052 CA385723511 |
573 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757937891 CA385723482 |
575 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757937891 CA6681234 |
575 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749979475 CA6681233 |
576 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1488580100 CA385723451 |
577 | N>I | No |
ClinGen gnomAD |
|
|
rs998775437 CA239151172 |
578 | C>Y | No |
ClinGen TOPMed |
|
|
COSM695281 rs867886404 CA239151163 |
579 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1593131191 CA385723394 |
581 | D>A | No |
ClinGen Ensembl |
|
|
CA239151156 rs902513355 |
581 | D>E | No |
ClinGen Ensembl |
|
|
CA6681232 rs764850494 |
581 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs986173250 CA239151153 |
583 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1042448086 CA239151138 |
586 | F>S | No |
ClinGen Ensembl |
|
|
rs779906074 CA6681230 |
589 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201963865 CA6681228 |
590 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681227 rs774748451 |
591 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6681226 COSM943039 rs568860338 |
593 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6681224 rs773481886 |
597 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA239151093 rs1031991441 |
599 | S>N | No |
ClinGen TOPMed |
|
|
CA6681222 rs748388072 |
604 | G>R | No |
ClinGen ExAC |
|
|
CA239151071 rs898678774 |
605 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM110215 rs143445184 CA239151067 |
608 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs780985274 CA6681221 |
610 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6681219 rs768358989 |
613 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385722947 rs1296566908 |
614 | Q>H | No |
ClinGen gnomAD |
|
|
rs779828149 CA6681217 |
615 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779828149 CA239151022 |
615 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746925365 CA6681218 |
615 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361465904 CA385722930 |
616 | A>D | No |
ClinGen gnomAD |
|
|
rs376356140 CA6681216 |
616 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA385722921 rs745371418 |
617 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM256395 rs745371418 CA6681215 |
617 | L>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6681213 rs753450314 |
618 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778396901 CA6681214 |
618 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17106884 CA6681209 VAR_048410 |
622 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755265439 CA6681210 |
622 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA385722853 rs1481327336 |
623 | T>I | No |
ClinGen gnomAD |
|
|
CA6681207 rs763620108 |
624 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs78078157 CA6681208 |
624 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765420920 CA6681205 |
625 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA6681204 rs762048226 |
628 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6681203 rs776751183 |
629 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA239150966 rs948542223 |
630 | I>F | No |
ClinGen TOPMed |
|
|
CA239150960 rs895527994 |
631 | N>S | No |
ClinGen TOPMed |
|
|
CA385722743 rs1377665005 |
632 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs949809829 CA239150954 |
635 | G>D | No |
ClinGen Ensembl |
|
|
rs768965727 CA6681202 |
637 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM3704388 CA6681201 rs377614110 |
637 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA385722618 rs1362637930 |
638 | V>F | No |
ClinGen gnomAD |
|
|
rs1593130729 CA385722613 |
638 | V>G | No |
ClinGen Ensembl |
|
|
CA6681198 rs745814497 |
639 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1192651938 CA385722529 |
642 | M>I | No |
ClinGen gnomAD |
|
|
rs1238206356 CA385722539 |
642 | M>T | No |
ClinGen gnomAD |
|
|
rs778341853 CA6681197 |
643 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385722368 rs1177884465 |
650 | D>N | No |
ClinGen gnomAD |
|
|
CA239150937 rs1048087172 |
651 | T>I | No |
ClinGen gnomAD |
|
|
CA6681191 rs374261993 |
653 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766853276 CA385722302 |
653 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374261993 CA6681192 |
653 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6681189 rs758917527 |
655 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750989316 CA6681188 |
656 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239150880 rs868102076 |
662 | E>K | No |
ClinGen Ensembl |
|
|
CA385722108 rs1274275419 |
663 | T>A | No |
ClinGen TOPMed |
|
|
CA6681186 rs780769904 |
664 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369290973 CA6681184 |
667 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6681183 rs761028388 |
668 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8N1M1
4 regional properties for Q8N1M1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FKBP-type peptidyl-prolyl cis-trans isomerase domain | 51 - 142 | IPR001179 |
| repeat | Tetratricopeptide repeat | 170 - 203 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 218 - 251 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 252 - 285 | IPR019734-3 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of ion transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NFU0 | BEST4 | Bestrophin-4 | Homo sapiens (Human) | SS |
| O76090 | BEST1 | Bestrophin-1 | Homo sapiens (Human) | SS |
| Q8NFU1 | BEST2 | Bestrophin-2a | Homo sapiens (Human) | SS |
| Q8BGM5 | Best2 | Bestrophin-2 | Mus musculus (Mouse) | SS |
| O88870 | Best1 | Bestrophin-1 | Mus musculus (Mouse) | SS |
| Q6H1V1 | Best3 | Bestrophin-3 | Mus musculus (Mouse) | EV |
| P34319 | best-5 | Bestrophin homolog 5 | Caenorhabditis elegans | PR |
| P34672 | best-24 | Bestrophin homolog 24 | Caenorhabditis elegans | PR |
| Q23369 | best-22 | Bestrophin homolog 22 | Caenorhabditis elegans | PR |
| O45435 | best-13 | Bestrophin homolog 13 | Caenorhabditis elegans | PR |
| Q19978 | best-14 | Bestrophin homolog 14 | Caenorhabditis elegans | PR |
| O18303 | best-25 | Bestrophin homolog 25 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTVTYSSKVA | NATFFGFHRL | LLKWRGSIYK | LLYREFIVFA | VLYTAISLVY | RLLLTGVQKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YFEKLSIYCD | RYAEQIPVTF | VLGFYVTLVV | NRWWNQFVNL | PWPDRLMFLI | SSSVHGSDEH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GRLLRRTLMR | YVNLTSLLIF | RSVSTAVYKR | FPTMDHVVEA | GFMTTDERKL | FNHLKSPHLK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YWVPFIWFGN | LATKARNEGR | IRDSVDLQSL | MTEMNRYRSW | CSLLFGYDWV | GIPLVYTQVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLAVYTFFFA | CLIGRQFLDP | TKGYAGHDLD | LYIPIFTLLQ | FFFYAGWLKV | AEQLINPFGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DDDDFETNWC | IDRNLQVSLL | AVDEMHMSLP | KMKKDIYWDD | SAARPPYTLA | AADYCIPSFL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GSTVQMGLSG | SDFPDEEWLW | DYEKHGHRHS | MIRRVKRFLS | AHEHPSSPRR | RSYRRQTSDS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SMFLPRDDLS | PARDLLDVPS | RNPPRASPTW | KKSCFPEGSP | TLHFSMGELS | TIRETSQTST |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LQSLTPQSSV | RTSPIKMPLV | PEVLITAAEA | PVPTSGGYHH | DSATSILSSE | FTGVQPSKTE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QQQGPMGSIL | SPSEKETPPG | GPSPQTVSAS | AEENIFNCEE | DPGDTFLKRW | SLPGFLGSSH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TSLGNLSPDP | MSSQPALLID | TETSSEISGI | NIVAGSRVSS | DMLYLMENLD | TKETDIIELN |
| KETEESPK |