P48167
PR
Gene name |
GLRB |
Protein name |
Glycine receptor subunit beta |
Names |
Glycine receptor 58 kDa subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2743 |
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
407 variants for P48167
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1380139789 RCV000809084 |
9 | F>* | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324001 rs1734101642 |
12 | L>V | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771937343 RCV001147866 CA3119638 |
13 | I>V | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149863285 CA3119643 RCV001147867 |
31 | K>R | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3119675 rs746978405 RCV001147868 |
50 | R>Q | Hyperekplexia 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs144279427 RCV000806578 CA3119678 RCV002534830 |
62 | R>K | Hyperekplexia 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1735782307 RCV001305466 |
76 | K>Q | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358641866 RCV000797404 rs748982851 |
81 | D>G | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001066515 CA358642292 rs1303450282 |
103 | V>I | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201218410 RCV001149410 CA3119740 |
126 | D>V | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000696337 rs1560962569 |
150 | S>missing | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706970 rs1560962636 |
158 | Q>missing | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001149412 rs1736421231 |
181 | L>V | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_068246 RCV000024246 rs398122856 CA129790 |
199 | M>R | Hyperekplexia 2 Hyperekplexia 2 (hkpx2) HKPX2; heteropentameric channel complexes with GLRA1 require much higher glycine levels for channel activation; no effect on expression at the cell membrane [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000268730 CA3119841 rs763516130 |
231 | F>S | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_035070 CA341355 rs121909749 RCV000017436 |
251 | G>D | Hyperekplexia 2 Hyperekplexia 2 (hkpx2) HKPX2; heteropentameric channel complexes with GLRA1 require much higher glycine levels for channel activation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553998291 RCV000650384 |
267 | G>MMGV | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075502 | 307 | L>R | HKPX2; heteropentameric channel complexes with GLRA1 have reduced expression at the cell membrane and display spontaneous channel opening in the absence of extracellular glycine [UniProt] | Yes | UniProt |
|
RCV000379815 rs750803516 CA3119924 COSM168565 |
318 | A>T | Hyperekplexia 2 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1737073395 RCV001223661 |
321 | P>S | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075503 | 332 | W>C | HKPX2; heteropentameric channel complexes with GLRA1 have reduced expression at the cell membrane and reduced channel activity [UniProt] | Yes | UniProt |
|
CA3119930 RCV000268287 rs758939135 |
346 | E>G | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000650385 rs746631259 |
408 | V>missing | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3120002 rs750707925 RCV001069938 |
448 | L>F | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373895476 RCV000373316 RCV000650383 |
456 | N>missing | Hyperekplexia 2 Hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001147058 CA3120011 rs148031091 |
462 | A>G | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs148031091 CA3120010 RCV000911953 |
462 | A>V | Hyperekplexia 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001245713 rs948239172 |
485 | F>missing | Hyperekplexia 2 [ClinVar] | Yes |
ClinVar dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358640854 rs914595544 |
3 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs914595544 CA109157516 |
3 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3119636 rs777881883 |
3 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 4 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332535443 CA358640877 |
6 | T>I | No |
ClinGen gnomAD |
|
|
CA358640884 rs1226054932 |
7 | T>I | No |
ClinGen gnomAD |
|
|
CA358640888 rs1338111783 |
8 | A>G | No |
ClinGen TOPMed |
|
|
rs139961228 CA3119637 |
8 | A>P | No |
ClinGen ESP ExAC |
|
|
CA358640889 rs1338111783 |
8 | A>V | No |
ClinGen TOPMed |
|
|
rs942587161 CA109157517 |
10 | L>F | No |
ClinGen gnomAD |
|
|
rs1285348238 CA358640906 |
11 | I>F | No |
ClinGen Ensembl |
|
|
CA358640913 rs1553991208 |
12 | L>* | No |
ClinGen Ensembl |
|
|
CA3119639 rs775265167 |
15 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1311408539 CA358640942 |
16 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3119640 rs760529205 |
17 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3119641 rs547823780 |
18 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 24 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444178117 CA358641007 |
25 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358641020 rs1383682405 COSM3825458 |
27 | S>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3119642 rs776194537 |
28 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358641039 rs1232212374 |
30 | G>E | No |
ClinGen TOPMed |
|
|
rs1473190455 CA358641037 |
30 | G>R | No |
ClinGen TOPMed |
|
|
rs750870150 CA3119644 |
32 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3119645 rs749901389 |
33 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3119647 rs766926881 |
36 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3119648 rs752111051 |
36 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA358641093 rs1183304446 |
38 | L>V | No |
ClinGen gnomAD |
|
|
CA3119650 rs139168167 |
41 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358641589 rs1216156506 |
42 | Q>R | No |
ClinGen gnomAD |
|
|
CA358641595 rs1296050660 |
43 | Q>E | No |
ClinGen gnomAD |
|
|
rs953840418 CA109162323 |
45 | A>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 45 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358641622 rs1243685773 |
47 | D>N | No |
ClinGen gnomAD |
|
|
rs1293250289 CA358641630 |
48 | L>F | No |
ClinGen gnomAD |
|
|
rs141963848 CA109162324 |
49 | A>G | No |
ClinGen ESP TOPMed |
|
|
CA358641642 rs746978405 |
50 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051372819 CA109162325 |
56 | T>N | No |
ClinGen Ensembl |
|
|
rs1251012068 CA358641688 |
58 | N>H | No |
ClinGen TOPMed |
|
|
CA358641743 rs1274702832 |
65 | V>D | No |
ClinGen TOPMed |
|
|
CA358641747 rs1233514838 |
66 | S>G | No |
ClinGen TOPMed |
|
|
CA358641749 rs1187433274 |
66 | S>N | No |
ClinGen gnomAD |
|
|
rs1174629972 CA358641757 |
67 | Y>F | No |
ClinGen gnomAD |
|
|
CA358641755 rs1480895483 |
67 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 68 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555010961 CA3119679 |
69 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748930056 CA3119681 |
73 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358641858 rs1445961595 |
80 | V>F | No |
ClinGen gnomAD |
|
|
CA3119699 rs748982851 |
81 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1277531132 CA358641886 |
84 | V>G | No |
ClinGen gnomAD |
|
|
rs1223991119 CA358641881 |
84 | V>I | No |
ClinGen gnomAD |
|
|
rs770661682 CA3119701 |
85 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1436787652 CA358641904 |
87 | F>Y | No |
ClinGen gnomAD |
|
|
CA358641914 rs1264173112 |
88 | I>S | No |
ClinGen gnomAD |
|
|
rs1457657327 CA358641918 |
89 | N>Y | No |
ClinGen gnomAD |
|
|
CA358641940 rs1203048764 |
92 | G>R | No |
ClinGen gnomAD |
|
|
CA358641944 rs1234659584 |
92 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3119704 rs778568230 |
98 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3119703 rs778568230 |
98 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1009262193 CA109163909 |
100 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1009262193 CA358642271 |
100 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1254160432 CA358642281 |
101 | Y>C | No |
ClinGen TOPMed |
|
|
rs1406375754 CA358642285 |
102 | R>G | No |
ClinGen gnomAD |
|
|
rs529837532 CA3119731 |
105 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3119732 rs766514232 |
105 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs529837532 CA3119730 |
105 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 110 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373599982 CA3119733 |
110 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358642357 rs1228266830 |
112 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760678723 CA3119734 |
114 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764190780 CA3119735 |
115 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA358642396 rs1579228999 |
118 | L>V | No |
ClinGen Ensembl |
|
|
rs867108532 CA109163911 |
119 | P>S | No |
ClinGen Ensembl |
|
|
rs1262803932 CA358642410 |
120 | S>T | No |
ClinGen gnomAD |
|
|
CA358642419 rs1190713827 |
121 | D>E | No |
ClinGen gnomAD |
|
|
rs753810143 CA3119736 |
122 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA3119737 rs757163799 |
123 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294573260 CA358642439 |
124 | G>V | No |
ClinGen TOPMed |
|
|
rs757938812 CA3119741 |
126 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1477944619 CA358642447 |
126 | D>H | No |
ClinGen gnomAD |
|
|
CA3119742 rs560221872 |
129 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA109163913 rs375721686 |
129 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs375721686 CA358642466 |
129 | T>R | No |
ClinGen ESP gnomAD |
|
|
CA358642475 rs1452545905 |
131 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3119743 rs746437926 |
134 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3119744 rs141265285 |
135 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs748634228 CA3119746 |
136 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415833754 CA358642526 |
138 | L>S | No |
ClinGen TOPMed |
|
|
COSM1695147 CA358642532 rs1348722043 |
139 | W>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA109163914 rs62636642 |
139 | W>C | No |
ClinGen Ensembl |
|
|
rs143539995 CA3119747 |
139 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA109163915 rs867617772 |
141 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447431121 CA358642568 |
144 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1253776114 | 146 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3119750 rs374744833 |
146 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358642585 rs1241251584 |
146 | A>V | No |
ClinGen gnomAD |
|
|
CA109163916 rs866482989 |
148 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs140878124 CA3119753 |
149 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140878124 CA3119754 |
149 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358642608 rs930078810 |
150 | S>C | No |
ClinGen TOPMed |
|
|
rs930078810 CA3119755 |
150 | S>G | No |
ClinGen TOPMed |
|
|
CA3119757 rs761800035 |
150 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358642614 rs1560962599 |
151 | A>T | No |
ClinGen Ensembl |
|
|
rs1386095107 CA358642621 |
152 | N>D | No |
ClinGen gnomAD |
|
|
CA3119759 rs374325111 |
152 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM230556 CA358642637 rs1560962621 |
154 | H>Y | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 155 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3119760 rs758074049 |
155 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358642661 rs1408893478 |
157 | T>I | No |
ClinGen gnomAD |
|
|
CA109163917 COSM1695148 rs568062230 |
159 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3119761 rs766014355 |
160 | N>I | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1306303890 CA358642686 |
161 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs368748559 CA3119766 |
166 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM110311 rs145671356 CA3119767 |
167 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200253694 CA3119768 |
167 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200253694 CA109163919 |
167 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200253694 CA3119769 |
167 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204292083 CA358642730 |
168 | D>A | No |
ClinGen gnomAD |
|
|
CA358642731 rs1204292083 |
168 | D>G | No |
ClinGen gnomAD |
|
|
CA358642735 rs1249205836 |
169 | G>R | No |
ClinGen gnomAD |
|
|
CA109163920 rs376393491 |
170 | D>G | No |
ClinGen ESP TOPMed |
|
|
CA3119770 rs138787100 |
171 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1462035702 CA358642773 |
175 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053609128 CA109163921 |
176 | R>T | No |
ClinGen TOPMed |
|
|
rs1347138695 CA358642802 |
177 | L>* | No |
ClinGen gnomAD |
|
|
rs1305631151 CA358642813 |
179 | I>V | No |
ClinGen gnomAD |
|
|
rs1358185168 CA358642838 |
183 | C>R | No |
ClinGen gnomAD |
|
|
CA3119799 rs759202495 |
183 | C>Y | No |
ClinGen ExAC |
|
|
rs1219757029 CA358642848 |
184 | P>R | No |
ClinGen gnomAD |
|
|
CA358642845 rs1316276920 |
184 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 185 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358642860 rs1402486472 |
186 | D>A | No |
ClinGen TOPMed |
|
|
rs569240499 CA109163930 |
187 | L>F | No |
ClinGen 1000Genomes |
|
|
CA109163929 rs1035041552 |
187 | L>S | No |
ClinGen TOPMed |
|
|
rs767093958 CA3119800 |
189 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA358642893 rs1287910151 |
191 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358642905 rs1171876238 |
192 | M>T | No |
ClinGen TOPMed |
|
|
rs760224325 CA3119802 |
194 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358642934 rs1171813751 |
194 | T>I | No |
ClinGen gnomAD |
|
|
rs975522417 CA109163931 |
196 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3119803 rs141976916 |
196 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3119804 rs754330008 |
201 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs536787475 CA3119805 |
203 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 204 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542004168 CA3119828 |
205 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3119832 rs527904761 |
209 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3119831 rs778883650 |
209 | D>N | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA109164142 rs1028736141 |
210 | D>Y | No |
ClinGen TOPMed |
|
|
rs1357555963 CA358643295 |
211 | L>S | No |
ClinGen TOPMed |
|
|
CA3119833 rs373790643 |
212 | R>* | Hyperekplexia 2 (hkpx2) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775213669 CA3119834 |
212 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1238385847 CA358643390 |
217 | S>* | No |
ClinGen TOPMed |
|
|
rs146321769 CA358643405 |
218 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3119836 rs146321769 |
218 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990360190 CA109164143 |
219 | D>G | No |
ClinGen Ensembl |
|
|
rs1473060681 CA358643424 |
220 | P>T | No |
ClinGen gnomAD |
|
|
rs1428356419 CA358643476 |
223 | L>F | No |
ClinGen gnomAD |
|
|
rs761443255 CA3119838 |
223 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1338694463 CA358643504 |
225 | K>E | No |
ClinGen gnomAD |
|
|
rs1359212897 CA358643512 |
225 | K>N | No |
ClinGen gnomAD |
|
|
rs1560964315 CA358643526 |
226 | I>M | No |
ClinGen Ensembl |
|
|
CA3119839 rs138300557 |
226 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3119840 rs773896806 |
227 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA109164145 rs369714657 |
227 | A>S | No |
ClinGen TOPMed |
|
|
CA109164144 rs369714657 |
227 | A>T | No |
ClinGen TOPMed |
|
|
rs773896806 CA358643537 |
227 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA109164146 rs151023274 COSM107848 |
230 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA109164148 COSM1695149 rs866839956 |
232 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3119842 rs546246853 |
233 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199963290 CA3119843 |
234 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 235 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755163096 CA3119844 |
235 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3119845 rs767851438 |
236 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560964377 CA358643679 |
237 | D>V | No |
ClinGen Ensembl |
|
|
CA3119846 rs752853387 |
238 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579231736 CA358643713 |
239 | E>D | No |
ClinGen Ensembl |
|
|
CA358643709 rs1437786969 |
239 | E>V | No |
ClinGen gnomAD |
|
|
CA109164149 rs377123223 |
240 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA109164150 rs981353015 |
241 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 243 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483472311 CA358643782 |
244 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1260367520 CA358643792 |
245 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745824514 CA3119849 |
246 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174129188 CA358643833 |
249 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs868572342 CA109164151 |
249 | G>V | No |
ClinGen Ensembl |
|
|
rs758271072 TCGA novel |
250 | T>= | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA109164152 rs968303695 |
250 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA358643841 rs968303695 |
250 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1489437642 CA358643837 |
250 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358643873 rs1429233614 |
253 | Y>* | No |
ClinGen gnomAD |
|
|
rs1392783617 CA358643882 |
255 | C>R | No |
ClinGen TOPMed |
|
|
CA109164679 rs144334540 |
256 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA358643900 rs1366587073 |
257 | E>D | No |
ClinGen gnomAD |
|
|
rs754842115 CA3119871 |
258 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1695150 rs747860161 CA3119873 |
263 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA358643942 rs1339995367 |
264 | R>K | No |
ClinGen gnomAD |
|
|
rs142433300 CA3119874 |
267 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358643970 rs1446249374 |
268 | F>S | No |
ClinGen gnomAD |
|
|
CA3119875 rs777429195 |
270 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs370576868 CA3119877 |
271 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358644009 rs1579235972 |
273 | V>G | No |
ClinGen Ensembl |
|
| rs753915588 | 273 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163550019 CA358644018 |
275 | A>T | No |
ClinGen gnomAD |
|
|
CA358644024 rs1384660918 |
276 | P>T | No |
ClinGen gnomAD |
|
|
CA358644037 rs1579236012 |
278 | L>V | No |
ClinGen Ensembl |
|
|
rs1323003472 CA358644042 |
279 | L>V | No |
ClinGen gnomAD |
|
|
CA358644052 rs1312992632 |
280 | I>M | No |
ClinGen gnomAD |
|
|
CA358644049 rs1230470622 |
280 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs199840817 CA3119881 |
280 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs938103926 CA109164683 |
282 | V>I | No |
ClinGen gnomAD |
|
|
rs1199286283 CA358644066 |
283 | L>F | No |
ClinGen gnomAD |
|
|
CA3119882 rs368298200 |
285 | W>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA109164684 rs372523024 |
286 | L>F | No |
ClinGen ESP |
|
|
CA358644109 rs1221823218 |
289 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1274398522 CA358644113 |
290 | I>V | No |
ClinGen TOPMed |
|
|
CA358644123 rs1269794898 |
291 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358644132 rs1434395347 |
292 | P>L | No |
ClinGen TOPMed |
|
|
rs760888864 CA3119884 |
293 | D>G | No |
ClinGen ExAC |
|
|
rs1560967306 CA358644140 |
294 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA358644145 rs1240723923 |
294 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765199715 CA3119888 |
299 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA109165628 rs766563595 |
302 | G>D | No |
ClinGen Ensembl |
|
|
rs753580125 CA3119912 |
304 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA109165630 COSM1695152 rs1024033857 |
305 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 305 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3119914 rs549141113 |
306 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1341734426 CA358644241 |
308 | S>N | No |
ClinGen TOPMed |
|
|
rs1250261870 CA358644253 |
310 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3119916 rs745430765 |
310 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs546257992 CA3119917 |
312 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3119918 rs762044849 |
313 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA109165631 rs762044849 |
313 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776941153 CA3119921 |
317 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs750803516 CA358644299 |
318 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948407781 CA109165632 |
319 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs147779008 CA358644330 |
323 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147779008 CA3119926 |
323 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA109165633 rs868460883 |
324 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA358644349 rs1579244261 |
326 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 330 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528431063 CA3119927 |
331 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA358644389 rs1408920942 |
332 | W>G | No |
ClinGen TOPMed |
|
|
CA3119928 rs760636363 |
334 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs763990271 CA3119929 |
335 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358644464 rs1294827561 |
343 | S>Y | No |
ClinGen gnomAD |
|
|
CA358644474 rs1170074757 |
345 | V>L | No |
ClinGen TOPMed |
|
|
CA358644472 rs1170074757 |
345 | V>M | No |
ClinGen TOPMed |
|
|
CA358644487 rs1229917921 |
347 | Y>D | No |
ClinGen gnomAD |
|
|
COSM1052570 rs868453004 CA109165635 |
348 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 349 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764867861 CA3119932 |
352 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750061262 CA3119933 |
353 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs757896029 CA3119934 |
353 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs750061262 CA358644524 |
353 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1189138432 CA358644548 |
356 | N>K | No |
ClinGen TOPMed |
|
|
rs543764621 CA3119935 |
356 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA109165636 rs1036530670 |
357 | P>A | No |
ClinGen Ensembl |
|
|
CA358644556 rs1260196396 |
358 | K>E | No |
ClinGen gnomAD |
|
|
rs755411654 CA3119937 |
359 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3119938 rs781549477 |
360 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3119939 rs748518342 |
361 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs954586979 CA109165638 |
365 | A>V | No |
ClinGen TOPMed |
|
|
CA3119941 rs777894229 |
366 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3119942 rs749500192 |
367 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358644622 rs1206848754 |
368 | A>S | No |
ClinGen TOPMed |
|
|
CA358644627 rs1288101058 |
369 | K>E | No |
ClinGen gnomAD |
|
|
CA358644629 rs1438527917 |
369 | K>T | No |
ClinGen TOPMed |
|
|
CA358644640 rs1355064370 |
371 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 372 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3119943 rs770934436 |
372 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373214670 CA3119946 |
373 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774510039 CA3119945 |
373 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774510039 CA3119944 |
373 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 374 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358644666 rs1226230504 |
375 | G>R | No |
ClinGen gnomAD |
|
|
CA3119948 rs761554333 |
376 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA358644684 rs1238732928 |
377 | G>A | No |
ClinGen gnomAD |
|
|
CA358644681 rs1483255844 |
377 | G>C | No |
ClinGen Ensembl |
|
|
rs1266633331 CA358644687 |
378 | G>* | No |
ClinGen gnomAD |
|
|
CA3119949 rs149915285 |
378 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358644691 rs1579244513 |
379 | N>D | No |
ClinGen Ensembl |
|
|
CA3119951 rs375381609 |
380 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 380 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3119950 rs750065514 |
380 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3119952 rs765878523 |
381 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482345428 CA358644704 |
381 | A>S | No |
ClinGen gnomAD |
|
|
rs751012465 CA3119953 |
384 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1348362705 CA358644731 |
385 | T>A | No |
ClinGen TOPMed |
|
|
rs754469988 CA3119954 |
385 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781712456 CA3119955 |
386 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1031026236 CA109165639 |
386 | V>L | No |
ClinGen gnomAD |
|
|
rs753215372 CA3119956 |
387 | N>S | No |
ClinGen ExAC |
|
|
rs866623242 CA109165640 |
388 | G>E | No |
ClinGen Ensembl |
|
|
rs1560972172 CA358644757 |
390 | G>R | No |
ClinGen Ensembl |
|
|
CA358644775 rs756482232 |
393 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756482232 CA3119957 |
393 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3119958 rs201823510 |
394 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 396 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404697258 CA358644800 |
396 | S>R | No |
ClinGen gnomAD |
|
|
rs1579244595 CA358644814 |
398 | L>F | No |
ClinGen Ensembl |
|
|
CA3119979 rs757694930 |
400 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358644846 rs1192898503 |
401 | G>A | No |
ClinGen TOPMed |
|
|
CA3119980 rs779320485 |
402 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746067292 CA3119981 |
403 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs780143117 CA3119983 |
405 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3119984 rs1554001150 |
405 | C>W | No |
ClinGen Ensembl |
|
|
CA3119987 rs748040208 |
408 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3119988 rs530289590 |
411 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA109167783 rs773511288 |
412 | K>M | No |
ClinGen Ensembl |
|
|
CA3119990 rs749146557 |
417 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3119991 rs373002083 |
418 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA109167784 rs918937050 |
419 | D>V | No |
ClinGen TOPMed |
|
|
CA3119992 rs774037817 |
421 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA109167785 rs201031600 |
425 | S>N | No |
ClinGen Ensembl |
|
|
CA358645046 rs1340524301 |
428 | R>G | No |
ClinGen TOPMed |
|
|
rs1302907815 CA358645055 |
429 | D>N | No |
ClinGen gnomAD |
|
|
rs1302907815 COSM1052572 CA358645054 |
429 | D>Y | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1242994016 CA358645077 |
432 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 433 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358645087 rs1361901423 |
433 | S>F | No |
ClinGen gnomAD |
|
|
CA3119997 rs760093314 |
434 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs983047695 CA109167786 |
442 | I>T | No |
ClinGen TOPMed |
|
|
rs764733822 CA3119998 |
442 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754270916 CA3119999 |
443 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749512865 CA109167787 |
445 | N>S | No |
ClinGen Ensembl |
|
|
CA358645172 rs1287507010 |
446 | N>H | No |
ClinGen gnomAD |
|
|
rs757748175 CA358645178 |
446 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358645183 rs1223522736 |
447 | G>A | No |
ClinGen gnomAD |
|
|
CA3120001 rs765649743 |
447 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3120003 rs370596921 |
450 | K>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358645217 rs780011965 |
453 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3120004 rs780011965 |
453 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162328674 CA358645223 |
454 | K>E | No |
ClinGen gnomAD |
|
|
CA3120006 rs747170836 |
456 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039853450 CA109167788 |
460 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3120007 rs755007714 |
460 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3120009 rs749199686 |
461 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA109167789 rs749199686 |
461 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs148031091 CA3120012 |
462 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358645281 rs1358777562 |
463 | K>T | No |
ClinGen gnomAD |
|
|
CA3120015 rs760275874 |
467 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358645307 rs1312932259 |
467 | P>S | No |
ClinGen TOPMed |
|
|
rs1186891487 CA358645313 |
468 | T>I | No |
ClinGen Ensembl |
|
|
CA3120016 rs552626208 |
471 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570886685 CA3120017 |
472 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM207210 rs1053763362 CA109167792 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3120018 rs762372179 |
473 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs765701013 CA3120019 |
474 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3120020 rs750759422 |
475 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1164138560 CA358645354 |
475 | L>P | No |
ClinGen gnomAD |
|
|
rs763395384 CA109167795 |
476 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA109167796 rs945350125 |
477 | A>S | No |
ClinGen TOPMed |
|
|
rs538366941 CA3120022 |
478 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1161424383 CA358645369 |
478 | R>K | No |
ClinGen TOPMed |
|
|
CA3120023 rs751698153 |
480 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA109167797 rs372833520 |
481 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs1008987691 CA109167798 |
482 | P>A | No |
ClinGen TOPMed |
|
|
rs777433679 CA109167799 |
484 | C>S | No |
ClinGen Ensembl |
|
|
rs377603371 CA3120024 |
486 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781080929 CA3120025 |
489 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA109167800 rs964531745 |
489 | N>S | No |
ClinGen TOPMed |
|
|
rs778689473 CA3120028 |
491 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3120029 rs745732691 |
492 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA358645472 rs1226476075 |
493 | W>S | No |
ClinGen gnomAD |
|
|
rs1237860184 CA358645477 |
494 | S>T | No |
ClinGen TOPMed |
|
|
CA109167801 rs1000474620 |
495 | I>M | No |
ClinGen gnomAD |
1 associated diseases with P48167
[MIM: 614619]: Hyperekplexia 2 (HKPX2)
A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO:0000269|PubMed:11929858, ECO:0000269|PubMed:21391991, ECO:0000269|PubMed:23238346}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO:0000269|PubMed:11929858, ECO:0000269|PubMed:21391991, ECO:0000269|PubMed:23238346}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for P48167
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| glycine-gated chloride channel complex | A protein complex that forms a transmembrane channel through which chloride ions may pass in response to glycine binding to the channel complex or one of its constituent parts. |
| glycinergic synapse | A synapse that uses glycine as a neurotransmitter. |
| 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 |
|---|---|
| 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. |
| extracellularly glycine-gated chloride channel activity | Enables the transmembrane transfer of a chloride ion by a channel that opens when glycine is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane. |
| extracellularly glycine-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when glycine is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane. |
| glycine binding | Binding to glycine, aminoethanoic acid. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| 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. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| acrosome reaction | The discharge, by sperm, of a single, anterior secretory granule following the sperm's attachment to the zona pellucida of the oocyte. The process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the exocytosis of the acrosomal contents into the zona pellucida. |
| adult walking behavior | The behavior of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg. |
| 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. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| gamma-aminobutyric acid receptor clustering | The receptor clustering process in which gamma-aminobutyric acid (GABA) receptors are localized to distinct domains in the cell membrane. |
| 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. |
| 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. |
| neuropeptide signaling pathway | A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| 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. |
| response to amino acid | 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 amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
| righting reflex | A reflex process in which an animal immediately tries to turn over after being placed in a supine position. |
| 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. |
| startle response | An action or movement due to the application of a sudden unexpected stimulus. |
| synaptic transmission, glycinergic | The vesicular release of glycine from a presynapse, across a chemical synapse, the subsequent activation of glycine 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. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P57695 | GLRA1 | Glycine receptor subunit alpha-1 | Bos taurus (Bovine) | PR |
| Q9GJS9 | GLRB | Glycine receptor subunit beta | Bos taurus (Bovine) | PR |
| Q94900 | GluClalpha | Glutamate-gated chloride channel | 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 |
| P32297 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | 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 |
| Q91XP5 | Glra3 | Glycine receptor subunit alpha-3 | Mus musculus (Mouse) | PR |
| Q64018 | Glra1 | Glycine receptor subunit alpha-1 | Mus musculus (Mouse) | PR |
| P48168 | Glrb | Glycine receptor subunit beta | Mus musculus (Mouse) | PR |
| P07727 | Glra1 | Glycine receptor subunit alpha-1 | Rattus norvegicus (Rat) | PR |
| P24524 | Glra3 | Glycine receptor subunit alpha-3 | Rattus norvegicus (Rat) | PR |
| P20781 | Glrb | Glycine receptor subunit beta | Rattus norvegicus (Rat) | PR |
| Q09453 | ggr-1 | Glycine receptor subunit beta-type 4 | Caenorhabditis elegans | PR |
| Q17328 | glc-2 | Glutamate-gated chloride channel subunit beta | Caenorhabditis elegans | PR |
| P41849 | lgc-50 | Ligand-gated ion channel 50 | Caenorhabditis elegans | PR |
| O93430 | glra1 | Glycine receptor subunit alphaZ1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKFLLTTAFL | ILISLWVEEA | YSKEKSSKKG | KGKKKQYLCP | SQQSAEDLAR | VPANSTSNIL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NRLLVSYDPR | IRPNFKGIPV | DVVVNIFINS | FGSIQETTMD | YRVNIFLRQK | WNDPRLKLPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DFRGSDALTV | DPTMYKCLWK | PDLFFANEKS | ANFHDVTQEN | ILLFIFRDGD | VLVSMRLSIT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSCPLDLTLF | PMDTQRCKMQ | LESFGYTTDD | LRFIWQSGDP | VQLEKIALPQ | FDIKKEDIEY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GNCTKYYKGT | GYYTCVEVIF | TLRRQVGFYM | MGVYAPTLLI | VVLSWLSFWI | NPDASAARVP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LGIFSVLSLA | SECTTLAAEL | PKVSYVKALD | VWLIACLLFG | FASLVEYAVV | QVMLNNPKRV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EAEKARIAKA | EQADGKGGNV | AKKNTVNGTG | TPVHISTLQV | GETRCKKVCT | SKSDLRSNDF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SIVGSLPRDF | ELSNYDCYGK | PIEVNNGLGK | SQAKNNKKPP | PAKPVIPTAA | KRIDLYARAL |
| 490 | |||||
| FPFCFLFFNV | IYWSIYL |