Q05901
PR
Gene name |
CHRNB3 |
Protein name |
Neuronal acetylcholine receptor subunit beta-3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1142 |
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
2 structures for Q05901
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8A5U | X-ray | 240 A | B | 25-231 | PDB |
| AF-Q05901-F1 | Predicted | AlphaFoldDB |
366 variants for Q05901
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA371103434 rs1336825473 |
3 | P>R | No |
ClinGen gnomAD |
|
|
rs372344450 CA4733805 |
10 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs923663520 CA176024886 |
11 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs375782815 CA4733807 |
13 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762008377 CA4733808 |
14 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs769973790 CA4733809 |
15 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 16 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363880679 CA371103523 |
18 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770064635 CA4733827 |
21 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1430004423 CA371098284 |
21 | G>V | No |
ClinGen gnomAD |
|
|
rs1469693712 CA371098287 |
22 | F>V | No |
ClinGen gnomAD |
|
|
CA176018494 rs1010014057 |
24 | S>* | No |
ClinGen Ensembl |
|
|
rs1322281387 CA371098302 |
24 | S>P | No |
ClinGen TOPMed |
|
|
rs79124649 CA371098310 |
25 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4733828 rs773412386 |
25 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141632890 CA176018497 |
25 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4733830 rs772048753 |
26 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1457176 CA4733832 rs760539559 |
27 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4733833 rs763771854 |
28 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1334592295 CA371098349 |
31 | A>D | No |
ClinGen gnomAD |
|
|
rs776335391 CA4733835 |
36 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227454895 CA371098404 |
39 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1350902532 CA371098401 |
39 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371098406 COSM3834753 rs1227454895 |
39 | G>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs761444265 CA4733836 |
41 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4733838 rs749944493 |
43 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4733837 rs764815972 |
43 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs757807880 CA4733839 |
44 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4733841 rs76865912 |
45 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733842 rs755411549 COSM172401 |
45 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA371098445 rs755411549 |
45 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470632922 CA371098452 |
47 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA176018548 rs371472380 |
51 | N>H | No |
ClinGen ESP gnomAD |
|
|
rs1330304140 CA371098495 |
53 | T>A | No |
ClinGen gnomAD |
|
|
CA371098499 rs1335889873 |
53 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4733847 rs749412332 |
54 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357687556 CA371098518 |
56 | V>A | No |
ClinGen gnomAD |
|
|
rs375375959 CA4733850 |
57 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746919857 CA4733851 |
59 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746919857 CA371098539 |
59 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56357313 CA4733853 |
60 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4733852 rs56357313 |
60 | L>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1361392949 CA371098559 |
62 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA371098563 rs1399680497 |
63 | S>Y | No |
ClinGen gnomAD |
|
|
CA371098567 rs1275190697 |
64 | Q>E | No |
ClinGen gnomAD |
|
|
rs761532805 CA4733855 |
66 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772803189 CA4733857 |
67 | D>N | No |
ClinGen ExAC |
|
|
rs376306516 CA4733858 |
68 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs80221890 CA4733870 |
71 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371098632 rs1223050765 |
72 | N>D | No |
ClinGen TOPMed |
|
|
rs1373593975 CA371098640 |
73 | Q>* | No |
ClinGen gnomAD |
|
|
COSM3699096 CA176019252 rs759488366 |
75 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 77 | T>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371098672 rs1286537377 |
78 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs745905290 CA4733871 |
79 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1281309172 CA371098687 |
80 | W>R | No |
ClinGen TOPMed |
|
|
CA371099720 rs1361729767 |
84 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4733887 rs779128053 |
85 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA176028209 rs998387478 |
87 | D>E | No |
ClinGen Ensembl |
|
|
CA176028211 rs1014389548 |
88 | H>D | No |
ClinGen TOPMed |
|
|
rs750504248 CA4733889 |
89 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758424582 CA4733890 |
89 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301835482 CA371099765 |
90 | L>F | No |
ClinGen gnomAD |
|
|
CA4733891 rs781157626 |
91 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748047952 CA4733892 |
91 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs374984781 CA4733893 |
92 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374984781 CA4733894 |
92 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371099799 rs749052989 |
94 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749052989 CA4733895 |
94 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733896 rs770493197 |
97 | Y>C | No |
ClinGen ExAC |
|
|
CA4733898 rs774015181 |
99 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733897 rs774015181 |
99 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371099898 rs1563615732 |
102 | S>P | No |
ClinGen Ensembl |
|
|
CA4733899 rs771681832 |
103 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776178196 CA4733900 COSM1457178 |
104 | K>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4733902 rs764606295 |
105 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377712071 CA371099936 |
105 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4733901 rs377712071 |
105 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA176028252 rs1012779025 |
107 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762201079 CA4733904 |
110 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4733903 rs140126510 |
110 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4733906 rs374032164 |
112 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374032164 CA4733905 |
112 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563615771 CA371100040 |
114 | D>G | No |
ClinGen Ensembl |
|
|
CA371100049 rs1367330929 |
115 | I>V | No |
ClinGen TOPMed |
|
|
CA4733908 rs758514542 |
116 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176028276 rs75170626 |
119 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 120 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371100185 rs1263650316 |
121 | A>V | No |
ClinGen TOPMed |
|
|
CA371100194 rs757039691 |
123 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733936 rs757039691 |
123 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733937 rs757039691 |
123 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745572319 CA4733938 |
124 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371100200 rs1316872227 |
124 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371100223 rs78513443 |
127 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs78513443 CA176028761 |
127 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs913237353 CA176028773 |
128 | S>F | No |
ClinGen gnomAD |
|
|
CA176028778 rs570078625 |
129 | L>M | No |
ClinGen 1000Genomes |
|
|
CA176028785 rs538615632 |
129 | L>P | No |
ClinGen 1000Genomes TOPMed |
|
|
rs538615632 CA176028782 |
129 | L>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs557808043 CA4733941 |
130 | M>I | No |
ClinGen ExAC TOPMed |
|
|
CA371100232 rs1168813329 |
130 | M>L | No |
ClinGen TOPMed |
|
|
rs201834364 CA176028789 |
131 | T>P | No |
ClinGen gnomAD |
|
|
rs201834364 CA371100240 |
131 | T>S | No |
ClinGen gnomAD |
|
|
rs1461825369 CA371100254 |
133 | V>D | No |
ClinGen TOPMed |
|
|
rs746544371 CA4733943 |
133 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1239520907 CA371100257 |
134 | I>F | No |
ClinGen gnomAD |
|
|
rs768194990 CA4733945 |
134 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748685091 CA4733946 |
137 | S>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1700055 rs1418024205 CA371100281 |
137 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs900331287 CA176028815 |
139 | G>A | No |
ClinGen TOPMed |
|
|
rs900331287 CA176028811 |
139 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1171439455 CA371100290 CA371100291 |
139 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773581682 CA4733948 |
140 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs773581682 CA371100298 |
140 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs144291358 CA4733949 |
141 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4733952 rs759584051 |
143 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1219243790 CA371100320 |
144 | T>A | No |
ClinGen gnomAD |
|
|
rs996436739 CA176028830 |
144 | T>I | No |
ClinGen Ensembl |
|
|
CA371100319 rs1219243790 |
144 | T>S | No |
ClinGen gnomAD |
|
|
CA371100332 rs1554591968 |
146 | P>R | No |
ClinGen Ensembl |
|
|
rs185338940 CA4733954 |
147 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371100352 rs1278932967 COSM1100053 |
149 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371100375 rs1383090667 |
152 | S>F | No |
ClinGen TOPMed |
|
|
rs765202503 CA4733956 |
153 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750276976 CA4733957 |
154 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758222240 CA4733958 |
155 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA371100394 rs758222240 |
155 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs746642865 CA4733960 |
157 | V>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1100054 rs746642865 CA371100406 |
157 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs189002629 CA4733961 |
158 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1174482303 CA371100416 |
159 | F>L | No |
ClinGen gnomAD |
|
|
rs780742017 CA4733962 |
161 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371100454 rs1424393965 |
164 | R>* | No |
ClinGen TOPMed |
|
|
rs770336239 CA4733964 |
164 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1415309985 CA371100462 |
165 | Q>R | No |
ClinGen gnomAD |
|
|
rs1014505486 CA176028871 |
169 | M>I | No |
ClinGen Ensembl |
|
|
CA371100488 rs1400474489 |
169 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371100498 rs1357464082 |
170 | K>R | No |
ClinGen gnomAD |
|
|
rs1343049310 CA371100521 |
173 | S>F | No |
ClinGen gnomAD |
|
|
rs963024663 CA176028881 |
174 | W>R | No |
ClinGen gnomAD |
|
|
rs1406270805 CA371100534 |
175 | T>I | No |
ClinGen gnomAD |
|
|
rs771263139 CA4733969 |
177 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4733970 rs774592196 |
178 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1356297299 CA371100561 |
179 | T>S | No |
ClinGen gnomAD |
|
|
CA176028892 rs995709393 |
180 | M>T | No |
ClinGen Ensembl |
|
|
CA371100571 rs1175511001 |
181 | V>I | No |
ClinGen TOPMed |
|
|
rs759795860 CA4733972 |
183 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759795860 CA4733971 |
183 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733973 rs534904091 |
184 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs891380221 CA176028904 |
185 | L>F | No |
ClinGen TOPMed |
|
|
CA371100612 rs1490016867 |
187 | N>S | No |
ClinGen gnomAD |
|
|
rs760632906 CA4733974 |
188 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4733976 rs574672480 |
191 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4733975 rs78866303 |
191 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146795777 CA4733977 |
194 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4733979 rs751231510 |
197 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM188469 rs1162798881 CA371100681 |
197 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1457180 rs1283147389 CA371100689 |
198 | N>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4733981 CA4733982 rs544144336 |
198 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1457181 rs1407056816 CA371100692 |
198 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA371100694 rs1374938821 |
199 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371100731 rs1334722555 |
203 | I>M | No |
ClinGen gnomAD |
|
|
CA371100735 rs1439484022 |
204 | L>P | No |
ClinGen gnomAD |
|
|
COSM382540 CA4733985 rs576780909 |
206 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4733987 rs749759313 |
208 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA371100758 rs1563616543 |
208 | G>R | No |
ClinGen Ensembl |
|
|
CA4733988 rs771351143 |
211 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371100784 rs1290610703 |
211 | G>V | No |
ClinGen gnomAD |
|
|
CA4733986 rs763302056 |
212 | N>G | No |
ClinGen ExAC gnomAD |
|
|
rs1179875668 CA371100791 |
212 | N>K | No |
ClinGen gnomAD |
|
|
CA176028961 rs1035879659 |
212 | N>S | No |
ClinGen Ensembl |
|
|
CA4733990 rs139676489 |
213 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1425720573 CA371100802 |
214 | R>M | No |
ClinGen TOPMed |
|
|
CA371100801 rs1425720573 |
214 | R>T | No |
ClinGen TOPMed |
|
|
COSM1457182 rs1383226244 CA371100813 |
216 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371100818 rs1408892206 |
216 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 217 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4733993 rs760859517 |
217 | V>M | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs577432391 CA176028983 |
219 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4733994 rs768825679 |
221 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs762974631 CA4733996 |
223 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1451548832 CA371100867 |
224 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs143528608 CA4733998 |
225 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751377779 CA4733999 |
226 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371100890 COSM1732288 rs1285336246 |
228 | V>I | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767219331 CA371100909 |
231 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs767219331 CA4734001 |
231 | R>S | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs146756174 CA4734002 |
235 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
rs755656849 CA4734003 |
237 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4734005 rs754400465 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734007 rs779219696 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA371101057 rs1172184865 |
245 | L>P | No |
ClinGen gnomAD |
|
|
CA371101067 rs1433777100 |
246 | G>A | No |
ClinGen Ensembl |
|
|
rs780364090 CA4734010 |
248 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4734011 rs750463267 |
250 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768919509 CA4734012 |
253 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM750317 rs748175547 CA4734014 |
254 | V>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1326326122 CA371101146 |
254 | V>L | No |
ClinGen gnomAD |
|
|
rs774103938 CA371101170 |
256 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734016 rs774103938 |
256 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759422009 CA176029062 |
259 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759422009 COSM1100058 CA4734017 |
259 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4734018 rs767181405 |
260 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1178549482 CA371101234 |
262 | G>R | No |
ClinGen TOPMed |
|
|
CA4734019 rs775275844 |
264 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753349291 CA4734023 |
270 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372103005 CA4734022 |
270 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1173756143 CA371101317 |
271 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369679759 CA4734026 |
276 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371101376 rs1398634666 |
278 | F>C | No |
ClinGen gnomAD |
|
|
CA371101385 rs1300595069 |
279 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4734027 rs758864231 |
279 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs747323259 CA4734029 |
284 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs75384358 CA4734030 |
284 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371101455 rs1234313589 |
285 | I>N | No |
ClinGen gnomAD |
|
|
CA371101456 rs1234313589 |
285 | I>S | No |
ClinGen gnomAD |
|
|
rs1563616737 CA371101453 |
285 | I>V | No |
ClinGen Ensembl |
|
|
rs769737518 CA371101492 |
288 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs769737518 CA4734033 |
288 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745784162 COSM116442 CA4734035 |
289 | S>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 291 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371101533 rs1455832559 COSM290304 |
292 | V>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4734036 rs771959250 |
293 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA176029118 rs1023311141 |
295 | L>R | No |
ClinGen TOPMed |
|
|
CA371101585 rs1268929474 |
296 | I>T | No |
ClinGen gnomAD |
|
|
rs1433398868 CA371101614 |
298 | E>D | No |
ClinGen gnomAD |
|
|
CA4734037 rs775277253 |
299 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760394173 TCGA novel CA4734038 |
302 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA4734039 rs763766498 |
303 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160871585 CA371101679 |
304 | M>T | No |
ClinGen gnomAD |
|
|
rs1466437433 CA371101752 |
310 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 311 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734040 rs776245529 |
312 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371101770 rs1168005620 |
312 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734041 rs761354778 |
313 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532561485 CA4734042 |
315 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371101851 rs1374322313 |
319 | N>D | No |
ClinGen gnomAD |
|
|
rs758846444 CA4734044 |
320 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4734045 rs766845736 |
321 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1266640415 CA371101884 |
322 | H>Y | No |
ClinGen gnomAD |
|
|
rs752006587 CA4734047 |
324 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202057288 CA4734049 |
327 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371101983 rs1444500265 |
329 | H>Q | No |
ClinGen gnomAD |
|
|
rs149775276 CA4734051 |
329 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371101994 rs1317814738 |
330 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1163299616 CA371101987 |
330 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1213285524 CA371101999 |
331 | M>L | No |
ClinGen gnomAD |
|
| rs1351647597 | 334 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749331492 CA4734053 |
335 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1244134576 CA371102050 |
335 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144954342 CA176029171 |
343 | L>F | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 344 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA176029175 rs1020404723 |
348 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs777490801 CA371102156 |
349 | M>L | No |
ClinGen Ensembl |
|
|
rs777490801 CA176029180 |
349 | M>V | No |
ClinGen Ensembl |
|
|
CA4734055 rs779926317 |
350 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA371102170 rs1226475033 |
351 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1314811548 CA371102186 |
353 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA371102193 rs1431365106 |
354 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746856425 CA4734056 COSM1100061 |
355 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4734057 rs768410524 |
355 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768410524 CA4734058 |
355 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA371102204 rs1267037804 |
356 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs761358053 CA4734059 |
358 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749252681 CA4734060 |
360 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762487387 CA4734062 |
364 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3766757 CA371102285 rs1416565500 |
367 | V>A | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs76545213 CA4734064 |
368 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734063 rs56198260 |
368 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371102301 rs1586411882 |
370 | G>D | No |
ClinGen Ensembl |
|
|
CA371102308 rs1467328570 |
371 | K>R | No |
ClinGen gnomAD |
|
|
rs1405037585 CA371102320 |
373 | L>F | No |
ClinGen gnomAD |
|
|
CA371102318 rs1405037585 |
373 | L>I | No |
ClinGen gnomAD |
|
|
CA176029211 rs940570313 |
374 | E>G | No |
ClinGen Ensembl |
|
|
CA4734067 rs753022313 |
374 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA4734068 rs372542634 |
375 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734069 rs777983441 |
376 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753893642 CA4734070 |
377 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371102346 rs1160318521 |
377 | K>T | No |
ClinGen Ensembl |
|
|
rs757310896 CA4734071 |
381 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780008336 CA4734072 |
381 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs757310896 CA371102376 |
381 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371102384 rs1310124711 |
382 | S>N | No |
ClinGen gnomAD |
|
|
rs1362048564 CA371102386 |
382 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1400277520 CA371102391 |
383 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746946270 CA4734073 |
384 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371102398 rs746946270 |
384 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483858556 CA371102425 |
388 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs930412356 CA176029239 |
389 | V>A | No |
ClinGen TOPMed |
|
|
rs536126163 CA4734076 |
391 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734077 rs769366828 |
393 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1045085933 CA176029249 |
395 | A>S | No |
ClinGen TOPMed |
|
|
rs1413044039 CA371102474 |
396 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4734078 rs772874296 |
399 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA176029254 rs1002184786 |
401 | Y>H | No |
ClinGen TOPMed |
|
|
rs180939079 CA4734080 |
403 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371102520 rs1246368362 |
403 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4734085 rs138515445 |
405 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs912753750 CA176029278 |
406 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1402840534 CA371102555 |
408 | K>R | No |
ClinGen TOPMed |
|
|
CA371102560 rs1290107264 |
409 | E>* | No |
ClinGen gnomAD |
|
|
CA371102572 rs1586412084 |
410 | H>L | No |
ClinGen Ensembl |
|
|
CA371102577 rs1220656376 |
411 | F>L | No |
ClinGen gnomAD |
|
|
CA4734088 rs754067790 |
411 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA371102599 rs1332680692 |
414 | Q>* | No |
ClinGen TOPMed |
|
|
rs78682427 CA4734110 |
417 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs78682427 CA371102852 |
417 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1157615167 CA371102865 |
418 | D>E | No |
ClinGen gnomAD |
|
|
CA371102886 rs1586415071 |
421 | F>Y | No |
ClinGen Ensembl |
|
|
CA371102891 rs1247487510 |
422 | V>I | No |
ClinGen gnomAD |
|
|
rs1382003502 CA371102901 |
423 | A>G | No |
ClinGen gnomAD |
|
|
rs752651602 CA4734113 |
423 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 424 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734114 rs757161082 |
428 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs757161082 CA176038740 |
428 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1450482545 CA371102930 |
428 | R>Q | No |
ClinGen TOPMed |
|
|
CA4734115 rs554240099 |
430 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA176038774 rs750130462 |
431 | L>P | No |
ClinGen TOPMed |
|
|
rs536797848 CA371102953 |
432 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA176038806 rs1039128545 |
432 | W>C | No |
ClinGen TOPMed |
|
|
CA4734116 rs567527967 |
432 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4734117 rs536797848 |
432 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371102982 rs1333108769 |
436 | I>M | No |
ClinGen TOPMed |
|
|
rs745393244 CA4734119 |
440 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 441 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771683869 CA4734121 |
441 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771683869 CA371103006 |
441 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176038835 rs572242520 |
441 | G>V | No |
ClinGen gnomAD |
|
|
rs556370872 CA4734124 |
442 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs768986702 CA371103013 |
442 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734125 rs768986702 |
442 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371103019 rs1586415202 |
443 | V>G | No |
ClinGen Ensembl |
|
|
rs1197000501 CA371103014 |
443 | V>I | No |
ClinGen gnomAD |
|
|
CA371103029 rs1458072435 |
445 | I>T | No |
ClinGen gnomAD |
|
|
CA371103026 rs1586415217 |
445 | I>V | No |
ClinGen Ensembl |
|
|
rs1586415242 CA371103042 |
447 | T>N | No |
ClinGen Ensembl |
|
|
rs762129788 CA4734127 |
447 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456799585 CA371103051 |
449 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4734128 rs770029995 |
450 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000884824 CA4734129 VAR_048173 rs35327613 |
451 | K>E | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs763063614 CA4734130 |
451 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA371103072 rs1468273916 |
452 | M>K | No |
ClinGen TOPMed |
|
|
rs1463672280 CA371103070 |
452 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371103083 rs1402846474 |
453 | W>* | No |
ClinGen gnomAD |
|
|
CA4734131 rs377465106 |
453 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752632408 CA4734132 |
455 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs760670573 CA4734133 |
455 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734134 rs763866594 |
455 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371103094 rs760670573 |
455 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 456 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q05901
3 regional properties for Q05901
9 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. |
| dopaminergic synapse | A synapse that uses dopamine as a neurotransmitter. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
8 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-gated cation-selective channel activity | Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. |
| channel activity | Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. |
| 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. |
| heterocyclic compound binding | Binding to heterocyclic compound. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
| 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. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| 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 synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
| response to nicotine | 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 a nicotine 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, 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 |
|---|---|---|---|---|
| Q07263 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Bos taurus (Bovine) | PR |
| P04758 | CHRNB1 | Acetylcholine receptor subunit beta | Bos taurus (Bovine) | PR |
| Q8SPU7 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Bos taurus (Bovine) | PR |
| P09481 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Gallus gallus (Chicken) | 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 |
| 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 |
| P30532 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Homo sapiens (Human) | 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 |
| P32297 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | 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 |
| Q2MKA5 | Chrna5 | Neuronal acetylcholine receptor subunit alpha-5 | Mus musculus (Mouse) | PR |
| Q8BMN3 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-3 | 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 |
| P04757 | Chrna3 | Neuronal acetylcholine receptor subunit alpha-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 |
| P12391 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-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 |
| MLPDFMLVLI | VLGIPSSATT | GFNSIAENED | ALLRHLFQGY | QKWVRPVLHS | NDTIKVYFGL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KISQLVDVDE | KNQLMTTNVW | LKQEWTDHKL | RWNPDDYGGI | HSIKVPSESL | WLPDIVLFEN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ADGRFEGSLM | TKVIVKSNGT | VVWTPPASYK | SSCTMDVTFF | PFDRQNCSMK | FGSWTYDGTM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VDLILINENV | DRKDFFDNGE | WEILNAKGMK | GNRRDGVYSY | PFITYSFVLR | RLPLFYTLFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IIPCLGLSFL | TVLVFYLPSD | EGEKLSLSTS | VLVSLTVFLL | VIEEIIPSSS | KVIPLIGEYL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LFIMIFVTLS | IIVTVFVINV | HHRSSSTYHP | MAPWVKRLFL | QKLPKLLCMK | DHVDRYSSPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KEESQPVVKG | KVLEKKKQKQ | LSDGEKVLVA | FLEKAADSIR | YISRHVKKEH | FISQVVQDWK |
| 430 | 440 | 450 | |||
| FVAQVLDRIF | LWLFLIVSVT | GSVLIFTPAL | KMWLHSYH |