P32297
PR
Gene name |
CHRNA3 (NACHRA3) |
Protein name |
Neuronal acetylcholine receptor subunit alpha-3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1136 |
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
436 variants for P32297
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2053539304 RCV001095529 |
1 | M>V | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053501632 RCV001095528 |
83 | T>missing | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001095527 rs2053208751 |
237 | I>missing | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001095526 rs2053207945 |
242 | L>missing | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001095525 rs1476174487 |
251 | P>R | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000993664 rs1596073421 |
337 | T>missing | Urinary bladder, atony of [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000993665 rs200551904 CA7684358 |
340 | S>* | Urinary bladder, atony of [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_083543 | 340 | S>del | BAIPRCK; loss-of-function variant affecting ion transmembrane transport in response to acetylcholine; does not localize to plasma membrane [UniProt] | Yes | UniProt |
|
CA393576536 rs1279513516 |
3 | S>A | No |
ClinGen TOPMed |
|
|
CA393576504 rs1260118540 |
5 | P>L | No |
ClinGen gnomAD |
|
|
rs1213012244 CA393576477 |
7 | S>L | No |
ClinGen gnomAD |
|
|
CA393576473 rs1222450259 |
8 | L>P | No |
ClinGen gnomAD |
|
|
CA393576469 rs1157356840 |
9 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393576461 rs1285532563 |
10 | L>R | No |
ClinGen gnomAD |
|
|
CA393576455 rs1405969632 |
11 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1360422869 CA393576446 |
13 | S>* | No |
ClinGen gnomAD |
|
|
CA393576444 rs1360422869 |
13 | S>L | No |
ClinGen gnomAD |
|
|
rs990096617 CA273883081 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1345793104 CA393576436 |
15 | P>S | No |
ClinGen gnomAD |
|
|
rs12906525 CA273883080 |
16 | R>P | No |
ClinGen Ensembl |
|
|
rs1175465346 CA393576431 |
16 | R>W | No |
ClinGen gnomAD |
|
|
CA273883079 rs12906406 |
17 | L>R | No |
ClinGen TOPMed |
|
|
CA393576421 rs1436985877 |
18 | L>R | No |
ClinGen TOPMed |
|
| VAR_013240 | 23 | L>del | No | UniProt | |
|
CA393576388 rs983411710 |
25 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393576386 rs1431961593 |
25 | L>Q | No |
ClinGen gnomAD |
|
|
CA273883039 rs983411710 |
25 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393576374 rs1384357086 |
27 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393576377 rs1293886693 |
27 | P>S | No |
ClinGen gnomAD |
|
|
rs1596087381 CA393576371 |
28 | V>L | No |
ClinGen Ensembl |
|
|
rs1555419714 CA393576348 |
29 | A>V | No |
ClinGen Ensembl |
|
|
CA393576346 rs1361502231 |
30 | R>G | No |
ClinGen gnomAD |
|
|
CA393576340 rs1183691826 |
31 | A>P | No |
ClinGen gnomAD |
|
|
CA393576339 rs1183691826 |
31 | A>S | No |
ClinGen gnomAD |
|
|
rs1436820899 CA393576335 |
31 | A>V | No |
ClinGen gnomAD |
|
|
rs760065623 CA273881837 |
32 | S>L | No |
ClinGen Ensembl |
|
|
CA393576327 rs1268570418 |
33 | E>* | No |
ClinGen TOPMed |
|
|
CA393576323 rs1454911058 |
33 | E>D | No |
ClinGen gnomAD |
|
|
rs528579731 CA7684630 |
35 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7684631 rs528579731 |
35 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 36 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78945897 CA273881828 |
37 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA393576301 rs78945897 |
37 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
VAR_059110 rs8192475 CA7684628 |
37 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs8192475 CA273881824 |
37 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273881829 rs78945897 |
37 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393576298 rs1362243162 |
38 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7684627 rs749747912 |
40 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA393576277 rs776209615 |
41 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684626 rs776209615 COSM243695 |
41 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201230767 CA273881819 |
41 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201962409 CA393576275 |
42 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs75495285 CA273881790 |
43 | F>V | No |
ClinGen gnomAD |
|
|
rs369004351 CA7684624 |
45 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422614753 CA393576246 |
46 | Y>C | No |
ClinGen gnomAD |
|
|
rs374943001 CA7684622 |
47 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747297519 CA7684621 |
49 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684619 rs752563961 |
51 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA7684618 rs752563961 |
51 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7684620 rs765428894 |
51 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754431447 CA7684616 |
53 | V>A | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 53 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760225919 CA7684613 |
55 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1293192930 CA393576187 |
56 | V>M | No |
ClinGen gnomAD |
|
|
rs1204610496 CA393576156 |
60 | V>A | No |
ClinGen gnomAD |
|
|
rs530472203 CA7684610 |
61 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA273881729 rs950115251 |
61 | I>V | No |
ClinGen Ensembl |
|
|
rs1239960277 CA393576107 |
63 | H>Y | No |
ClinGen gnomAD |
|
|
rs763384023 CA7684609 |
64 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA393576074 rs1246972099 |
65 | E>A | No |
ClinGen Ensembl |
|
|
COSM965404 rs776084113 CA7684608 |
65 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1347295435 CA393576041 |
67 | S>F | No |
ClinGen gnomAD |
|
|
rs770447044 CA7684607 |
67 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA393576026 CA7684605 rs776823198 |
68 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7684606 rs745905590 |
68 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684604 rs771098760 |
69 | S>C | No |
ClinGen ExAC |
|
|
rs200605426 CA273881700 |
70 | Q>* | No |
ClinGen Ensembl |
|
|
rs561519013 CA7684603 |
70 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7684602 rs201989875 |
73 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684580 rs773258822 |
75 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA393575812 rs1337332458 |
79 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199630864 CA273881460 |
80 | I>V | No |
ClinGen TOPMed |
|
|
CA7684579 rs377297481 CA393575791 |
81 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768500644 CA393575232 |
88 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs768500644 CA7684576 |
88 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs994950029 CA273881421 |
88 | K>R | No |
ClinGen Ensembl |
|
|
rs200165934 CA273915278 |
91 | W>* | No |
ClinGen Ensembl |
|
|
rs1596084464 CA393589237 |
91 | W>R | No |
ClinGen Ensembl |
|
|
rs202033313 CA273915267 |
92 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201124658 CA7684544 |
93 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157033811 CA393589207 |
94 | Y>D | No |
ClinGen gnomAD |
|
|
rs1402624213 CA393589199 |
95 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 95 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393589195 rs1413022511 |
95 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7684543 rs3743075 |
97 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393589173 rs1480018496 |
98 | W>* | No |
ClinGen gnomAD |
|
|
CA393589137 rs1488773319 |
100 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393589139 rs1488773319 |
100 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1192780226 CA393589140 |
100 | P>S | No |
ClinGen gnomAD |
|
|
rs932663105 CA273915204 |
103 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA273915207 rs201646744 |
103 | Y>H | No |
ClinGen gnomAD |
|
|
CA393589104 rs1223271222 |
104 | G>S | No |
ClinGen gnomAD |
|
|
CA7684537 rs762616468 |
106 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596084371 CA393589074 |
108 | F>V | No |
ClinGen Ensembl |
|
|
rs986259414 CA273915202 |
109 | M>L | No |
ClinGen Ensembl |
|
|
rs775325162 CA7684536 COSM1374804 |
110 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs77574318 CA7684535 |
110 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273915194 rs972546811 |
112 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393589048 rs972546811 |
112 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770506354 CA7684532 |
113 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273915183 rs267604333 |
114 | Q>* | No |
ClinGen Ensembl |
|
|
rs1240316730 CA393589031 |
115 | K>E | No |
ClinGen TOPMed |
|
|
rs1177991671 CA393589001 |
116 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA393588993 rs1567092430 |
117 | W>R | No |
ClinGen Ensembl |
|
|
CA393588960 rs1261005468 |
118 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747800632 CA7684527 |
123 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA393588848 rs1258087166 |
124 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1234467023 CA393588812 |
126 | N>S | No |
ClinGen gnomAD |
|
|
CA7684483 rs781514820 |
127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA273906011 rs201986182 |
128 | V>A | No |
ClinGen Ensembl |
|
|
rs1201673840 CA393586798 |
133 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393586755 rs747512200 |
134 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393586778 rs1266118924 |
134 | D>Y | No |
ClinGen gnomAD |
|
|
rs1334226695 CA393586745 |
135 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393586748 rs1334226695 |
135 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758452997 CA7684479 |
137 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393586606 rs1457167215 |
139 | A>G | No |
ClinGen TOPMed |
|
|
CA7684478 rs752749283 |
139 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755132539 CA7684476 |
142 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7684477 rs755132539 |
142 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA393586522 rs754167059 |
143 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452551606 CA393586533 |
143 | Y>N | No |
ClinGen gnomAD |
|
|
rs766268680 CA7684474 |
144 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1473157897 CA393586479 |
145 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs71651684 CA273905960 |
147 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 147 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273905959 rs201559369 |
148 | T>I | No |
ClinGen Ensembl |
|
|
CA273905958 rs570003848 |
149 | W>L | No |
ClinGen Ensembl |
|
|
CA393586393 rs1453851892 |
150 | I>V | No |
ClinGen gnomAD |
|
|
rs112696857 CA273905953 COSM1301474 |
152 | P>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA393586240 rs1270313441 |
156 | K>Q | No |
ClinGen gnomAD |
|
|
rs984595773 CA273905928 |
159 | C>Y | No |
ClinGen TOPMed |
|
|
CA273905908 rs200927324 |
162 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7684467 rs762582486 |
162 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs200161807 CA7684465 |
163 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA393586022 rs1385977497 |
166 | F>L | No |
ClinGen gnomAD |
|
|
rs72648887 CA7684464 |
167 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA393585974 rs1228202381 |
171 | Q>* | No |
ClinGen gnomAD |
|
|
CA7684461 rs748738137 |
172 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs555968931 CA273905872 |
173 | C>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7684460 rs778841169 |
173 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393585929 rs1233516651 |
175 | M>I | No |
ClinGen TOPMed |
|
|
rs201648536 CA7684459 |
175 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA393585915 rs1480950763 |
176 | K>N | No |
ClinGen TOPMed |
|
|
rs780434499 CA7684457 |
178 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA393585902 rs1406240223 |
178 | G>S | No |
ClinGen gnomAD |
|
|
rs200640072 CA7684456 |
180 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs767389238 CA7684454 |
182 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs934273238 CA273905839 |
183 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201993014 CA7684452 |
184 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200795919 CA7684451 |
185 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7684449 rs373218818 |
187 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA273905811 rs759225098 |
188 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7684447 rs759225098 |
188 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772545198 CA7684445 |
190 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA273905805 rs980156624 |
190 | V>G | No |
ClinGen Ensembl |
|
|
CA393585771 rs1409661872 |
191 | L>Q | No |
ClinGen gnomAD |
|
|
rs768795101 CA7684442 |
193 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684440 rs780385627 |
194 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780385627 CA7684441 |
194 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393585747 rs1448213990 |
195 | S>T | No |
ClinGen gnomAD |
|
|
rs1392044688 CA393585730 COSM965401 |
196 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1444202915 CA619417595 |
201 | Y>* | No |
ClinGen gnomAD |
|
|
rs746154616 CA7684438 |
203 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs144488029 CA7684437 |
204 | S>N | No |
ClinGen ESP ExAC |
|
|
rs751388943 CA7684435 |
205 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393585657 rs1208058020 |
206 | E>G | No |
ClinGen TOPMed |
|
|
CA393585660 rs1309337063 |
206 | E>K | No |
ClinGen TOPMed |
|
|
CA393585651 rs1235684669 |
207 | W>G | No |
ClinGen TOPMed |
|
|
rs1340001277 CA393585639 |
208 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7684433 rs55958820 |
209 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764034645 CA7684434 |
209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200244272 CA7684431 |
210 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7684430 rs759093187 |
211 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA393585606 rs1567077400 |
211 | K>Q | No |
ClinGen Ensembl |
|
|
rs1282132856 CA393585600 |
211 | K>R | No |
ClinGen gnomAD |
|
|
rs75253420 CA273905742 |
212 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7684429 rs75253420 |
212 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328625383 CA393585576 |
214 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs71581738 CA7684428 |
215 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273905732 rs76821682 |
216 | K>N | No |
ClinGen Ensembl |
|
|
rs72650603 CA7684427 |
217 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7684425 rs200382777 |
218 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684424 rs775689954 |
218 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA393585511 rs200382777 |
218 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181230979 CA393585435 |
222 | N>I | No |
ClinGen gnomAD |
|
|
rs770056747 CA7684423 |
224 | C>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393585344 rs1433740441 |
225 | E>D | No |
ClinGen gnomAD |
|
|
CA393585284 rs201699381 |
227 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393585269 rs1596073814 |
228 | Y>S | No |
ClinGen Ensembl |
|
|
rs756947841 CA7684419 |
229 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7684417 rs777582527 RCV000991221 |
230 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA393585195 rs1279304143 |
231 | I>M | No |
ClinGen gnomAD |
|
|
CA273905691 rs199955606 |
232 | T>P | No |
ClinGen Ensembl |
|
|
rs56371320 CA273905681 |
234 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1309237172 CA393585119 |
235 | L>P | No |
ClinGen gnomAD |
|
|
CA7684414 rs1555417641 |
235 | L>V | No |
ClinGen Ensembl |
|
|
CA393585085 rs1348142014 |
237 | I>N | No |
ClinGen gnomAD |
|
|
rs149559299 COSM458951 CA7684411 |
238 | R>Q | cervix Variant assessed as Somatic; 9.272e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7684412 rs199887463 |
238 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs61737495 CA7684410 |
239 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA273905637 rs61737495 |
239 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7684409 rs766076436 |
239 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7684408 rs762042374 |
241 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372805117 CA7684407 |
244 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 247 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529535693 CA7684403 |
250 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393584875 rs1476174487 |
251 | P>L | No |
ClinGen TOPMed |
|
|
CA393584862 rs1331592185 |
252 | C>W | No |
ClinGen gnomAD |
|
|
CA273905607 rs200732759 |
252 | C>Y | No |
ClinGen Ensembl |
|
|
rs200129241 CA393584858 |
253 | L>V | No |
ClinGen TOPMed |
|
|
CA7684401 rs759677807 |
255 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200497131 CA273905579 |
257 | F>L | No |
ClinGen Ensembl |
|
|
CA393584798 rs1176080666 |
258 | L>F | No |
ClinGen TOPMed |
|
|
rs199667131 CA273905575 |
258 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1295333312 COSM965399 CA393584759 |
262 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs200528785 CA273905551 |
268 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200528785 CA393584716 |
268 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs201927629 CA273905549 |
269 | C>G | No |
ClinGen Ensembl |
|
|
rs368207734 CA7684397 |
270 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368207734 CA7684398 |
270 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432491435 CA393584698 |
271 | E>K | No |
ClinGen gnomAD |
|
| rs1423035143 | 272 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7684396 rs771917193 |
274 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1204759174 CA393584664 |
276 | C>G | No |
ClinGen gnomAD |
|
|
rs1596073611 CA393584638 |
280 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 281 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754395587 CA7684393 |
284 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1233037687 CA393584581 |
289 | V>G | No |
ClinGen gnomAD |
|
|
rs750981168 CA273905489 |
298 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 301 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs538193392 RCV000991220 RCV000480331 |
303 | L>missing | No |
ClinVar dbSNP |
|
|
rs1465407210 CA393584494 |
303 | L>P | No |
ClinGen gnomAD |
|
|
rs1465407210 CA393584495 |
303 | L>Q | No |
ClinGen gnomAD |
|
|
CA7684382 rs776748067 |
304 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178058626 CA393584484 |
305 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393584475 rs1374666127 |
306 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1374799 rs773423894 CA7684379 |
311 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs201140675 CA273905438 |
312 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 314 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867171560 CA273905437 |
316 | T>A | No |
ClinGen Ensembl |
|
|
rs1567076663 CA393584387 |
317 | L>M | No |
ClinGen Ensembl |
|
|
rs1200230901 CA393584367 |
319 | I>V | No |
ClinGen gnomAD |
|
|
rs768605760 CA7684373 |
320 | V>A | No |
ClinGen ExAC |
|
|
rs142201786 CA7684374 |
320 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393584329 rs1596073478 |
322 | T>P | No |
ClinGen Ensembl |
|
|
rs1223267345 CA393584318 |
323 | V>I | No |
ClinGen Ensembl |
|
|
rs569381256 CA273905405 COSM196498 |
325 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs755647517 CA7684370 |
326 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781008848 CA393584246 |
328 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684368 rs781008848 |
328 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393584188 rs1376623543 |
330 | Y>* | No |
ClinGen gnomAD |
|
|
CA393584191 rs1183170816 |
330 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7684366 rs79115483 |
334 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM379065 CA7684365 rs79115483 |
334 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA393584143 rs1463209995 |
335 | T>I | No |
ClinGen TOPMed |
|
|
rs1431167072 CA393584108 |
337 | T>I | No |
ClinGen gnomAD |
|
|
rs773373066 CA7684360 |
338 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs527271716 CA7684361 |
338 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393584071 rs1182842586 |
339 | P>L | No |
ClinGen gnomAD |
|
|
CA7684359 rs201264849 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7684356 rs202165978 |
341 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA393584021 rs201033197 |
343 | K>R | No |
ClinGen gnomAD |
|
|
CA273905300 rs201033197 |
343 | K>T | No |
ClinGen gnomAD |
|
|
CA393583995 rs1567076379 |
345 | V>G | No |
ClinGen Ensembl |
|
|
rs1415223417 CA393583972 |
348 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 349 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292414441 CA393583925 |
350 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA273905259 rs199926819 |
351 | P>R | No |
ClinGen Ensembl |
|
|
rs968965351 CA273905248 |
353 | V>I | No |
ClinGen TOPMed |
|
|
rs371099773 CA7684352 |
354 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255690792 CA393583846 |
354 | M>V | No |
ClinGen TOPMed |
|
|
CA7684350 rs780955625 CA7684351 |
356 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1007347247 CA393583808 |
356 | M>K | No |
ClinGen TOPMed |
|
|
rs1007347247 CA273905247 |
356 | M>R | No |
ClinGen TOPMed |
|
|
rs746714273 CA393583761 |
359 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684348 rs746714273 |
359 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369885063 CA393583739 |
360 | T>I | No |
ClinGen gnomAD |
|
|
CA273905226 rs924068952 |
360 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA393583746 rs924068952 |
360 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373120946 CA7684347 |
361 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7684346 rs201180674 |
362 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61737491 CA7684342 |
363 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684344 rs140801923 |
363 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7684341 rs148001814 |
364 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266712422 CA393583662 |
365 | N>T | No |
ClinGen gnomAD |
|
|
rs201696921 CA7684339 |
366 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763883522 CA7684338 |
367 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs71581739 CA7684335 RCV000901285 |
371 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA393583534 rs1286243716 |
371 | P>S | No |
ClinGen gnomAD |
|
|
rs377526041 CA7684333 |
372 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs377526041 CA393583523 |
372 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
|
RCV000960953 CA7684331 rs141141954 |
374 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777301381 CA7684329 COSM1238510 |
376 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393583444 rs1410153010 |
377 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273905125 rs201571154 |
380 | L>V | No |
ClinGen Ensembl |
|
|
CA7684328 rs151151599 |
383 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749646208 CA7684327 |
384 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684325 rs76643872 |
384 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs76018802 CA7684322 |
385 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7684323 rs76018802 |
385 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199640841 CA7684321 |
385 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA7684324 rs76018802 |
385 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200539472 CA7684319 COSM1176620 |
386 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393583344 rs199547324 |
387 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7684317 rs71581734 |
388 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147763776 CA7684316 |
390 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393583293 rs1596073222 |
391 | C>G | No |
ClinGen Ensembl |
|
|
CA7684315 rs776712651 |
391 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7684313 rs760121707 |
392 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 395 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596073203 CA393583193 |
395 | Y>S | No |
ClinGen Ensembl |
|
|
rs1383872006 CA393583163 |
396 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA393583116 rs1322946017 |
398 | Q>R | No |
ClinGen gnomAD |
|
|
CA7684310 rs747881368 |
400 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684306 CA7684307 rs781674102 |
401 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684308 rs770212340 |
401 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7684305 rs757311888 |
403 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA393582976 rs1188045279 |
403 | G>R | No |
ClinGen gnomAD |
|
|
CA393582934 rs1250193936 |
405 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7684304 rs751626212 |
405 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs934661890 CA273904980 |
406 | H>D | No |
ClinGen Ensembl |
|
|
CA393582913 rs1447294312 |
406 | H>R | No |
ClinGen gnomAD |
|
|
rs539921242 CA7684302 |
407 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7684303 rs777950786 |
407 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7684301 rs79701466 |
408 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369865763 CA7684300 |
408 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7684299 rs759413686 |
409 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273904931 rs759413686 |
409 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766450343 CA7684297 |
413 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1486349825 CA393582759 |
414 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 414 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs74381441 CA7684296 RCV000911966 |
415 | F>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA273904917 rs772871397 |
416 | S>G | No |
ClinGen Ensembl |
|
|
CA7684295 rs772572818 |
416 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273904916 rs201168437 |
417 | A>T | No |
ClinGen Ensembl |
|
|
rs201578163 CA7684294 |
420 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393582674 CA273904879 rs202038335 |
421 | R>S | No |
ClinGen TOPMed |
|
|
CA393582668 rs1405004784 |
422 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 422 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM70181 CA7684292 rs551101196 |
423 | S>F | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs560775272 CA273904857 |
424 | S>R | No |
ClinGen gnomAD |
|
|
rs1236640896 CA393582618 |
426 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs76763770 CA273904852 |
426 | E>K | No |
ClinGen Ensembl |
|
|
rs201268648 CA273904840 |
428 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7684291 rs770085955 |
428 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747603633 CA7684287 |
433 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs771314842 CA7684288 |
433 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1276137032 CA393582520 |
435 | S>P | No |
ClinGen gnomAD |
|
|
CA7684286 rs777705545 |
437 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7684285 rs758506197 |
438 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs993219419 CA393582450 |
439 | P>A | No |
ClinGen TOPMed |
|
|
rs993219419 CA273904771 |
439 | P>S | No |
ClinGen TOPMed |
|
|
CA273904764 rs962021157 |
443 | E>K | No |
ClinGen gnomAD |
|
|
rs139816034 CA7684281 |
444 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA7684279 rs754776308 |
445 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs199988203 CA273904694 |
446 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7684277 rs766325850 |
447 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393582295 rs1476026510 |
447 | S>R | No |
ClinGen gnomAD |
|
|
rs199515569 CA7684275 |
448 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7684276 rs199515569 |
448 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482017941 CA7684273 |
450 | Y>C | No |
ClinGen gnomAD |
|
|
CA7684271 rs200681637 |
451 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204555209 CA393582200 |
451 | I>V | No |
ClinGen gnomAD |
|
|
rs1249689928 CA7684269 |
452 | A>T | No |
ClinGen TOPMed |
|
|
CA393582163 rs1419481900 |
452 | A>V | No |
ClinGen TOPMed |
|
|
CA7684267 rs763768665 |
453 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA393582103 rs1160995345 |
455 | M>T | No |
ClinGen TOPMed |
|
|
rs1415267847 CA393582046 |
458 | Q>* | No |
ClinGen TOPMed |
|
|
CA393582005 rs1460591599 |
459 | N>D | No |
ClinGen TOPMed |
|
|
rs762637954 CA7684265 |
460 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs78692605 CA273904641 |
461 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393581941 rs1298842146 |
463 | E>G | No |
ClinGen gnomAD |
|
|
CA393581938 rs1298842146 |
463 | E>V | No |
ClinGen gnomAD |
|
|
rs72648888 CA273901221 |
464 | I>N | No |
ClinGen gnomAD |
|
|
rs72648888 CA393580875 |
464 | I>S | No |
ClinGen gnomAD |
|
|
rs966199601 CA273901184 |
465 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs966199601 COSM471116 CA393580871 |
465 | Q>K | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA273901180 rs199617381 |
467 | D>Y | No |
ClinGen gnomAD |
|
|
rs1455388077 CA393580824 |
468 | W>* | No |
ClinGen gnomAD |
|
|
CA393580823 rs1268778312 |
468 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1413820151 CA393580791 |
470 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA393580799 rs1159819277 |
470 | Y>D | No |
ClinGen gnomAD |
|
|
CA273901174 rs144266081 |
471 | V>G | No |
ClinGen ESP |
|
|
rs755943620 CA393580760 |
473 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs750271843 CA7684243 |
473 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs755943620 CA7684244 |
473 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA393580733 rs1246969439 |
475 | I>T | No |
ClinGen gnomAD |
|
|
rs767513666 CA7684242 |
475 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267371762 CA393580726 |
476 | D>H | No |
ClinGen TOPMed |
|
|
rs751042207 CA7684240 |
477 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201426786 CA7684239 |
477 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201426786 CA273901155 |
477 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751042207 CA7684241 |
477 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762582876 CA7684238 |
478 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7684237 rs752416849 |
481 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7684236 rs766591602 |
482 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1364745369 CA393580620 |
485 | L>R | No |
ClinGen gnomAD |
|
|
rs201983342 CA273901127 |
486 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7684233 rs772596477 |
487 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA393580592 rs1289200750 |
488 | I>V | No |
ClinGen gnomAD |
|
|
rs949752908 CA393580580 |
489 | L>I | No |
ClinGen gnomAD |
|
|
rs867880844 CA273901092 |
490 | G>W | No |
ClinGen Ensembl |
|
|
RCV000486332 rs774559139 CA7684231 |
491 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs201438830 CA273901067 |
493 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7684227 rs200364229 |
499 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393580461 rs1240583116 |
499 | L>P | No |
ClinGen TOPMed |
|
|
rs1260151778 CA393580450 |
500 | M>R | No |
ClinGen gnomAD |
|
|
CA393580414 rs1267274943 |
503 | E>A | No |
ClinGen gnomAD |
|
|
CA393580418 rs1212226077 |
503 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
1 associated diseases with P32297
[MIM: 191800]: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT (BAIPRCK)
An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood. {ECO:0000269|PubMed:31708116}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood. {ECO:0000269|PubMed:31708116}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P32297
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | 363 - 372 | IPR002464 |
| domain | Helicase-like, DEXD box c2 type | 3 - 413 | IPR006554 |
| domain | ATP-dependent helicase, C-terminal | 628 - 803 | IPR006555 |
| domain | RAD3-like helicase, DEAD | 214 - 390 | IPR010614 |
| domain | Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type | 1 - 433 | IPR014013 |
Functions
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| acetylcholine-gated channel complex | A homo- or hetero-pentameric protein complex that forms a transmembrane channel through which ions may pass in response to acetylcholine binding. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| 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. |
| integral component of plasma membrane | The component of the plasma 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| plasma membrane raft | A membrane raft that is part of the plasma membrane. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylcholine binding | Binding to acetylcholine, an acetic acid ester of the organic base choline that functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions. |
| acetylcholine receptor activity | Combining with an acetylcholine receptor ligand and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| acetylcholine-gated cation-selective channel activity | Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. |
| excitatory extracellular ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. |
| ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| acetylcholine receptor signaling pathway | The series of molecular signals generated as a consequence of an acetylcholine receptor binding to one of its physiological ligands. |
| activation of transmembrane receptor protein tyrosine kinase activity | Any process that initiates the activity of the inactive transmembrane receptor protein tyrosine kinase activity. |
| behavioral response to nicotine | Any process that results in a change in the behavior of an organism as a result of a nicotine stimulus. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| excitatory postsynaptic potential | A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| ion transport | 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. |
| locomotory behavior | The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. |
| membrane depolarization | The process in which membrane potential decreases with respect to its steady-state potential, usually from negative potential to a more positive potential. For example, the initial depolarization during the rising phase of an action potential is in the direction from the negative steady-state resting potential towards the positive membrane potential that will be the peak of the action potential. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| regulation of acetylcholine secretion, neurotransmission | Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine. |
| regulation of dendrite morphogenesis | Any process that modulates the frequency, rate or extent of dendrite morphogenesis. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| regulation of smooth muscle contraction | Any process that modulates the frequency, rate or extent of smooth muscle contraction. |
| response to acetylcholine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetylcholine stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| synaptic transmission involved in micturition | The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. |
| synaptic transmission, cholinergic | The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
37 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P04758 | CHRNB1 | Acetylcholine receptor subunit beta | Bos taurus (Bovine) | PR |
| Q8SPU7 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Bos taurus (Bovine) | PR |
| Q07263 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Bos taurus (Bovine) | PR |
| P26152 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Gallus gallus (Chicken) | PR |
| Q9I8C7 | CHRNA10 | Neuronal acetylcholine receptor subunit alpha-10 | Gallus gallus (Chicken) | PR |
| P43679 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Gallus gallus (Chicken) | PR |
| P09481 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Gallus gallus (Chicken) | PR |
| Q5IS76 | CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5IS75 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Pan troglodytes (Chimpanzee) | PR |
| P25162 | nAChRbeta2 | Acetylcholine receptor subunit beta-like 2 | Drosophila melanogaster (Fruit fly) | PR |
| P14867 | GABRA1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O14764 | GABRD | Gamma-aminobutyric acid receptor subunit delta | Homo sapiens (Human) | PR |
| Q9UN88 | GABRQ | Gamma-aminobutyric acid receptor subunit theta | Homo sapiens (Human) | PR |
| P11230 | CHRNB1 | Acetylcholine receptor subunit beta | Homo sapiens (Human) | PR |
| Q15825 | CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6 | Homo sapiens (Human) | PR |
| Q05901 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Homo sapiens (Human) | PR |
| P30532 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Homo sapiens (Human) | PR |
| P48167 | GLRB | Glycine receptor subunit beta | Homo sapiens (Human) | PR |
| P23415 | GLRA1 | Glycine receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O75311 | GLRA3 | Glycine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P23979 | Htr3a | 5-hydroxytryptamine receptor 3A | Mus musculus (Mouse) | PR |
| P04756 | Chrna1 | Acetylcholine receptor subunit alpha | Mus musculus (Mouse) | PR |
| Q9R0W9 | Chrna6 | Neuronal acetylcholine receptor subunit alpha-6 | Mus musculus (Mouse) | PR |
| P09690 | Chrnb1 | Acetylcholine receptor subunit beta | Mus musculus (Mouse) | PR |
| Q8BMN3 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-3 | Mus musculus (Mouse) | PR |
| Q2MKA5 | Chrna5 | Neuronal acetylcholine receptor subunit alpha-5 | Mus musculus (Mouse) | PR |
| P43144 | Chrna9 | Neuronal acetylcholine receptor subunit alpha-9 | Rattus norvegicus (Rat) | PR |
| P35563 | Htr3a | 5-hydroxytryptamine receptor 3A | Rattus norvegicus (Rat) | PR |
| P43143 | Chrna6 | Neuronal acetylcholine receptor subunit alpha-6 | Rattus norvegicus (Rat) | PR |
| P12391 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-3 | Rattus norvegicus (Rat) | PR |
| P25109 | Chrnb1 | Acetylcholine receptor subunit beta | Rattus norvegicus (Rat) | PR |
| P25108 | Chrna1 | Acetylcholine receptor subunit alpha | Rattus norvegicus (Rat) | PR |
| P20420 | Chrna5 | Neuronal acetylcholine receptor subunit alpha-5 | Rattus norvegicus (Rat) | PR |
| P04757 | Chrna3 | Neuronal acetylcholine receptor subunit alpha-3 | Rattus norvegicus (Rat) | PR |
| P54244 | deg-3 | Acetylcholine receptor subunit alpha-type deg-3 | Caenorhabditis elegans | PR |
| P54246 | acr-5 | Acetylcholine receptor subunit alpha-type acr-5 | Caenorhabditis elegans | PR |
| Q93149 | acr-3 | Acetylcholine receptor subunit beta-type acr-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSGPLSLPL | ALSPPRLLLL | LLLSLLPVAR | ASEAEHRLFE | RLFEDYNEII | RPVANVSDPV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IIHFEVSMSQ | LVKVDEVNQI | METNLWLKQI | WNDYKLKWNP | SDYGGAEFMR | VPAQKIWKPD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IVLYNNAVGD | FQVDDKTKAL | LKYTGEVTWI | PPAIFKSSCK | IDVTYFPFDY | QNCTMKFGSW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SYDKAKIDLV | LIGSSMNLKD | YWESGEWAII | KAPGYKHDIK | YNCCEEIYPD | ITYSLYIRRL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PLFYTINLII | PCLLISFLTV | LVFYLPSDCG | EKVTLCISVL | LSLTVFLLVI | TETIPSTSLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IPLIGEYLLF | TMIFVTLSIV | ITVFVLNVHY | RTPTTHTMPS | WVKTVFLNLL | PRVMFMTRPT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SNEGNAQKPR | PLYGAELSNL | NCFSRAESKG | CKEGYPCQDG | MCGYCHHRRI | KISNFSANLT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RSSSSESVDA | VLSLSALSPE | IKEAIQSVKY | IAENMKAQNE | AKEIQDDWKY | VAMVIDRIFL |
| 490 | 500 | ||||
| WVFTLVCILG | TAGLFLQPLM | AREDA |