Q9H244
PR
Gene name |
P2RY12 (HORK3) |
Protein name |
P2Y purinoceptor 12 |
Names |
P2Y12, ADP-glucose receptor, ADPG-R, P2T(AC), P2Y(AC), P2Y(cyc), P2Y12 platelet ADP receptor, P2Y(ADP), SP1999 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64805 |
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
267 variants for Q9H244
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_072802 | 187 | H>Q | BDPLT8 [UniProt] | Yes | UniProt |
|
RCV000009649 rs1560045738 |
240 | I>missing | Platelet-type bleeding disorder 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002247281 rs121917885 VAR_025383 COSM304308 RCV000009650 CA120104 |
256 | R>Q | Variant assessed as Somatic; 9.264e-05 impact. large_intestine Platelet-type bleeding disorder 8 BDPLT8 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001703090 rs202099742 RCV002264773 CA85725994 RCV001270569 |
258 | P>T | Platelet-type bleeding disorder 8 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA2667801 RCV000661901 RCV000851950 rs755459581 |
265 | R>P | Platelet-type bleeding disorder 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000009651 RCV002512947 rs121917886 CA120106 VAR_025384 RCV002247282 |
265 | R>W | Platelet-type bleeding disorder 8 BDPLT8 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA2667924 rs376034077 |
4 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199959126 CA85726276 |
5 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1426241330 CA354984427 |
6 | N>D | No |
ClinGen gnomAD |
|
|
rs6785930 CA354984397 |
6 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85726270 rs796564589 |
8 | T>N | No |
ClinGen Ensembl |
|
|
rs1577369073 CA354984349 |
9 | S>A | No |
ClinGen Ensembl |
|
|
CA2667921 rs771379536 |
10 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771379536 CA2667920 |
10 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354984271 rs1374762309 |
12 | G>S | No |
ClinGen gnomAD |
|
|
rs374992095 CA2667915 |
13 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354984236 rs1456773476 |
14 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1222191380 CA354984205 |
15 | S>G | No |
ClinGen TOPMed |
|
|
rs1213491299 CA354984180 |
16 | L>V | No |
ClinGen gnomAD |
|
|
CA354984125 rs1316277822 |
18 | T>P | No |
ClinGen gnomAD |
|
|
CA85726251 rs868114180 |
19 | R>K | No |
ClinGen Ensembl |
|
|
CA2667912 rs751346386 |
21 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1369023905 CA354984051 |
21 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667910 rs758305935 |
23 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1462064812 CA354983989 |
24 | T>P | No |
ClinGen TOPMed |
|
|
rs897434919 CA85726244 |
27 | L>P | No |
ClinGen gnomAD |
|
|
CA2667909 rs750320737 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs137981161 CA2667907 |
31 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2667908 rs137981161 |
31 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763701099 CA2667905 |
37 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA354983725 rs1392841396 |
38 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433300821 CA354983728 |
38 | V>F | No |
ClinGen gnomAD |
|
|
rs200854863 CA2667903 |
39 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439180705 CA354983690 |
40 | L>I | No |
ClinGen TOPMed |
|
|
CA354983672 rs1485497069 |
41 | I>F | No |
ClinGen gnomAD |
|
|
CA354983665 rs1258199474 |
41 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1258199474 CA354983662 |
41 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1476732178 CA354983627 |
44 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1345420919 CA354983572 |
46 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 52 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667901 rs763377288 |
52 | Q>R | No |
ClinGen ExAC |
|
|
CA2667899 rs770337997 |
54 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2667900 rs192284069 |
54 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2667896 rs768905411 |
55 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA354983234 rs1315405766 |
55 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2667894 rs780489513 |
56 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA2667895 rs780489513 |
56 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329671155 CA354983137 |
59 | F>L | No |
ClinGen TOPMed |
|
|
rs1169633387 CA354983078 |
60 | I>T | No |
ClinGen gnomAD |
|
|
CA85726205 rs143829505 |
61 | I>F | No |
ClinGen ESP gnomAD |
|
|
CA85726207 COSM107144 rs143829505 |
61 | I>V | skin [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
rs758252816 CA2667893 |
66 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA354982929 rs1189391792 |
66 | T>I | No |
ClinGen gnomAD |
|
|
rs1044138755 CA85726201 |
76 | T>I | No |
ClinGen Ensembl |
|
|
CA354982649 rs1488067482 |
80 | K>R | No |
ClinGen gnomAD |
|
|
CA354982619 rs1285770975 |
83 | S>N | No |
ClinGen TOPMed |
|
|
rs1577368217 CA354982590 |
85 | A>G | No |
ClinGen Ensembl |
|
|
rs540492659 CA2667890 |
86 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354982559 rs1324814153 |
88 | G>A | No |
ClinGen TOPMed |
|
|
CA2667889 rs753243500 COSM1693605 |
88 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA354982543 rs1560046688 |
90 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA354982525 rs1481732141 |
91 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667886 rs755664732 |
95 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249952427 CA354982442 |
99 | V>I | No |
ClinGen TOPMed |
|
|
rs752345228 CA2667884 |
100 | T>A | No |
ClinGen ExAC |
|
|
CA85726183 rs947116652 |
102 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354982362 rs1560046626 |
106 | F>V | No |
ClinGen Ensembl |
|
|
CA85726177 rs367926037 |
108 | M>L | No |
ClinGen ESP TOPMed |
|
|
CA354982333 rs1355461721 |
108 | M>R | No |
ClinGen gnomAD |
|
|
CA354982335 rs1355461721 |
108 | M>T | No |
ClinGen gnomAD |
|
|
CA2667881 rs767167583 |
109 | Y>* | No |
ClinGen ExAC |
|
|
rs751693118 CA85726174 |
109 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs763157277 CA2667880 |
110 | I>F | No |
ClinGen ExAC |
|
|
CA2667879 rs765608592 |
110 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA85726170 rs1021764199 |
110 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762358552 CA2667877 |
111 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA354982251 rs1374555502 |
115 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756504008 CA85726161 |
117 | L>M | No |
ClinGen TOPMed |
|
|
rs777316609 CA2667876 |
117 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375376556 CA2667875 |
118 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1017419525 CA354982204 |
120 | I>S | No |
ClinGen TOPMed |
|
|
CA85726151 rs1017419525 |
120 | I>T | No |
ClinGen TOPMed |
|
|
CA2667874 rs747141489 |
120 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667872 COSM1039958 rs370954402 |
121 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs557043245 CA2667871 |
122 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778790805 RCV001270568 COSM1670645 RCV002246267 CA2667870 |
122 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2667869 rs757054486 |
123 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354982089 rs1469081778 |
125 | K>N | No |
ClinGen gnomAD |
|
|
CA2667867 rs116818045 |
127 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 129 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354981999 rs1356812817 |
130 | F>L | No |
ClinGen TOPMed |
|
|
rs1027064693 CA85726141 |
133 | S>A | No |
ClinGen Ensembl |
|
|
CA85726140 rs77619475 |
133 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 137 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291847651 CA354981789 |
138 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA85726132 rs897116062 |
140 | G>V | No |
ClinGen Ensembl |
|
|
CA2667864 rs752204543 |
142 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354981694 rs1184744413 |
143 | I>N | No |
ClinGen TOPMed |
|
|
rs1306756787 CA354981702 |
143 | I>V | No |
ClinGen gnomAD |
|
|
CA354981680 rs1263707463 |
144 | L>P | No |
ClinGen TOPMed |
|
|
CA2667862 rs754678426 |
146 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2667863 rs767114062 |
146 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA354981635 rs754678426 |
146 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA85726122 rs906109927 |
147 | V>F | No |
ClinGen TOPMed |
|
|
rs1003099624 CA85726120 |
148 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354981589 rs1159031994 |
150 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1044595308 CA85726117 |
152 | M>T | No |
ClinGen TOPMed |
|
|
rs765604897 CA2667859 |
154 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA85726111 rs1044568742 |
155 | L>F | No |
ClinGen gnomAD |
|
|
rs1044568742 CA354981472 |
155 | L>I | No |
ClinGen gnomAD |
|
|
rs1577367351 CA354981452 |
156 | S>F | No |
ClinGen Ensembl |
|
|
rs199746754 CA2667857 |
158 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354981392 rs1366306449 |
159 | N>D | No |
ClinGen TOPMed |
|
|
rs764709900 CA2667856 |
159 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419118252 CA354981383 |
159 | N>T | No |
ClinGen TOPMed |
|
|
rs760773017 CA2667855 |
160 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA354981362 rs1207351573 |
160 | M>V | No |
ClinGen gnomAD |
|
|
CA2667854 rs775744997 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2667853 rs566389626 |
163 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746084742 CA354981242 |
164 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1305227886 CA354981238 |
165 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774480391 CA2667851 |
166 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs749142270 CA2667849 |
167 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577367082 RCV000852145 CA354981078 |
174 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354981069 rs1577367056 |
175 | C>G | No |
ClinGen Ensembl |
|
|
RCV000852148 CA354981067 rs1577367042 |
175 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs780654645 CA2667845 |
179 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2667844 rs754485666 |
180 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354981031 rs1171959802 |
181 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA354981030 rs1171959802 |
181 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2667842 rs16863320 |
182 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354981016 rs764657007 |
183 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85726076 rs976417425 |
183 | G>D | No |
ClinGen TOPMed |
|
|
rs764657007 CA2667839 |
183 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764657007 COSM169162 CA2667840 |
183 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1261698342 CA354980995 |
186 | W>* | No |
ClinGen gnomAD |
|
|
rs761286961 CA354980998 |
186 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs761286961 CA2667838 |
186 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA354980992 rs1212003771 |
187 | H>Y | No |
ClinGen gnomAD |
|
|
CA354980974 rs1386030142 |
189 | I>T | No |
ClinGen TOPMed |
|
|
rs1278660546 CA354980970 |
190 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs976052391 CA85726069 |
191 | N>H | No |
ClinGen TOPMed |
|
|
CA354980950 rs1343855164 |
193 | I>V | No |
ClinGen gnomAD |
|
|
CA2667837 rs753306510 |
194 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs879192182 CA85726065 |
196 | V>G | No |
ClinGen Ensembl |
|
|
rs535856604 CA2667836 |
199 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354980901 rs535856604 |
199 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs943960274 RCV000852170 CA85726055 |
200 | I>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs375189871 CA2667835 |
200 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774623268 TCGA novel CA2667834 |
202 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA2667833 rs771075348 |
204 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762694917 CA2667832 |
206 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667829 rs370983746 |
207 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769622362 CA2667830 |
207 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354980851 rs1200091737 |
208 | C>R | No |
ClinGen Ensembl |
|
|
rs755439126 CA85726042 |
210 | T>I | No |
ClinGen Ensembl |
|
|
CA2667827 rs768198990 |
212 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs746513347 CA2667826 |
214 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779688496 CA2667825 |
214 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs143655651 CA85726032 |
214 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 217 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs911824376 CA354980784 |
218 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA85726025 rs911824376 |
218 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM3380440 rs758020400 CA2667824 |
218 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354980776 rs1273326735 |
220 | Y>H | No |
ClinGen gnomAD |
|
|
COSM1039955 rs1336826072 CA354980769 |
221 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 222 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667822 rs148966366 |
223 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354980747 rs533622869 |
224 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951857095 CA85726020 |
224 | R>T | No |
ClinGen Ensembl |
|
|
CA354980741 rs1175602897 |
225 | G>A | No |
ClinGen TOPMed |
|
|
rs767970539 CA2667819 |
225 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 231 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237009397 CA354980677 |
232 | K>Q | No |
ClinGen gnomAD |
|
|
CA547367189 rs1408448348 |
233 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667817 rs751620038 |
234 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763135685 CA2667815 |
236 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1416405115 CA354980621 |
236 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354980600 rs1234988421 |
237 | K>I | No |
ClinGen gnomAD |
|
|
rs773458825 CA2667814 |
240 | I>L | No |
ClinGen ExAC |
|
|
rs777930592 CA2667813 |
241 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1256866256 CA354980541 |
242 | I>V | No |
ClinGen gnomAD |
|
|
CA85726008 rs961690628 |
243 | A>V | No |
ClinGen gnomAD |
|
|
CA354980510 rs1291405839 |
244 | V>G | No |
ClinGen gnomAD |
|
|
CA354980508 rs1227702067 |
245 | F>I | No |
ClinGen gnomAD |
|
|
COSM3767102 rs1281080506 CA354980474 |
247 | I>T | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768479880 CA2667807 |
255 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392419754 CA354980327 |
256 | R>* | No |
ClinGen gnomAD |
|
|
rs1465590813 CA354980279 |
259 | Y>C | No |
ClinGen gnomAD |
|
|
rs1325581551 CA354980264 |
260 | T>N | No |
ClinGen TOPMed |
|
|
CA2667805 rs771757422 |
261 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2667803 rs778778945 |
264 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs121917886 CA354980222 |
265 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667800 rs755459581 |
265 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002508873 CA85725972 |
266 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354980197 rs1317445792 |
268 | F>L | No |
ClinGen gnomAD |
|
|
rs766333657 CA2667798 |
269 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2667797 rs758537011 |
270 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1560045486 CA354980159 |
271 | T>I | No |
ClinGen Ensembl |
|
|
rs1490768660 CA354980153 |
272 | A>V | No |
ClinGen Ensembl |
|
|
rs765458528 CA2667795 |
277 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs893264382 CA354980089 |
278 | Y>* | No |
ClinGen gnomAD |
|
|
rs1368809794 CA354980096 |
278 | Y>H | No |
ClinGen gnomAD |
|
|
rs761528306 CA2667794 |
279 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172105404 CA354980047 |
281 | E>A | No |
ClinGen TOPMed |
|
|
rs1157349113 CA354980055 |
281 | E>Q | No |
ClinGen gnomAD |
|
|
CA354980032 rs760509900 |
282 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2667791 rs760509900 |
282 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2667790 rs372954515 |
283 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs533423822 CA2667789 |
284 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA85725938 rs934398058 |
286 | L>F | No |
ClinGen gnomAD |
|
|
CA2667787 rs774092350 |
289 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354979947 rs1486144291 |
290 | N>S | No |
ClinGen gnomAD |
|
|
rs770714899 CA2667786 |
291 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781386522 CA2667784 |
292 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs564568226 CA2667782 |
295 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564568226 CA354979891 |
295 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2667781 rs780595507 |
298 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 300 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779678942 | 301 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354979813 rs1364658715 |
302 | C>F | No |
ClinGen gnomAD |
|
|
rs1448402312 CA354979767 |
306 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA85725904 rs929420354 |
307 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2667779 rs758414641 |
307 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1253586732 CA354979751 |
308 | S>Y | No |
ClinGen gnomAD |
|
|
CA354979738 rs1376383529 |
310 | I>L | No |
ClinGen gnomAD |
|
|
CA354979739 rs1376383529 |
310 | I>V | No |
ClinGen gnomAD |
|
|
CA85725900 rs758959749 |
315 | C>F | No |
ClinGen Ensembl |
|
|
rs750504675 CA2667778 |
315 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354979689 rs750504675 |
315 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483272596 CA354979681 |
315 | C>W | No |
ClinGen gnomAD |
|
|
rs375416739 CA2667777 |
316 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2667775 rs754141331 |
317 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667774 rs763765856 |
318 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2667773 rs760586689 |
320 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs181775983 CA2667772 |
323 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474633624 CA354979611 |
324 | Q>H | No |
ClinGen TOPMed |
|
|
rs1241984465 CA354979615 |
324 | Q>R | No |
ClinGen TOPMed |
|
|
rs767580616 CA2667771 |
325 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs759052638 CA2667770 |
326 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354979586 rs1309279839 |
327 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1309279839 CA354979585 |
327 | R>T | No |
ClinGen gnomAD |
|
|
rs748857978 CA2667767 |
328 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228560462 CA354979573 |
328 | K>N | No |
ClinGen gnomAD |
|
|
VAR_049431 CA2667766 rs16846673 RCV000956146 |
330 | E>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1295483765 CA354979549 |
331 | Q>E | No |
ClinGen gnomAD |
|
|
CA2667765 rs768886185 |
331 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1401985961 CA354979537 |
332 | D>N | No |
ClinGen gnomAD |
|
|
CA2667764 rs369811114 |
333 | G>S | No |
ClinGen ESP ExAC |
|
|
CA85725860 rs866017651 |
334 | G>D | No |
ClinGen Ensembl |
|
|
rs745898005 CA354979509 |
335 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667761 rs745898005 |
335 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354979514 rs1317577133 |
335 | D>N | No |
ClinGen TOPMed |
|
|
rs377285934 CA2667760 |
336 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1260768 CA85725853 rs868790738 |
336 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA354979465 rs1167999499 |
339 | E>D | No |
ClinGen gnomAD |
|
|
CA354979459 rs1432722197 |
340 | T>I | No |
ClinGen TOPMed |
|
|
CA354979444 rs757399384 |
342 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs757399384 CA2667759 |
342 | M>V | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9H244
[MIM: 609821]: Bleeding disorder, platelet-type, 8 (BDPLT8)
A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. {ECO:0000269|PubMed:11196645, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:25428217}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. {ECO:0000269|PubMed:11196645, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:25428217}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell body membrane | The plasma membrane of a cell that bears surface projections such as axons, dendrites, cilia, or flagella, excluding the plasma membrane on cell projections. |
| cell projection membrane | The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| 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. |
| intrinsic component of membrane | The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled adenosine receptor activity | Combining with adenosine and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| G protein-coupled ADP receptor activity | Combining with ADP and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| G protein-coupled purinergic nucleotide receptor activity | Combining with a purine nucleotide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of phospholipase C activity | The initiation of the activity of the inactive enzyme phospolipase C as the result of The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand. |
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP). |
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| calcium-mediated signaling using extracellular calcium source | The series of molecular signals in which a cell uses calcium ions imported from an extracellular source to convert a signal into a response. |
| cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cellular response to ATP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ATP (adenosine 5'-triphosphate) stimulus. |
| cytosolic calcium signaling involved in initiation of cell movement in glial-mediated radial cell migration | The process that results in the fluctuations in intracellular calcium that are responsible for the initiation of movement as a component of the process of cerebral cortex glial-mediated radial migration. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| hemostasis | The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. |
| 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. |
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| phospholipase C-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG). |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| positive regulation of cell adhesion mediated by integrin | Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin. |
| positive regulation of chemotaxis | Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. |
| positive regulation of integrin activation by cell surface receptor linked signal transduction | Any process that activates or increases the frequency, rate, or extent of integrin activation by cell surface receptor linked signal transduction. This can occur by increased affinity of an integrin for its extracellular ligands. |
| positive regulation of ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of microglial cell migration | Any process that activates or increases the frequency, rate or extent of microglial cell migration. |
| positive regulation of phosphatidylinositol 3-kinase activity | Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| positive regulation of ruffle assembly | Any process that activates or increases the frequency, rate or extent of ruffle assembly. |
| regulation of chemotaxis | Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. |
| regulation of microglial cell migration | Any process that modulates the frequency, rate or extent of microglial cell migration. |
| response to axon injury | 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 axon injury stimulus. |
| substrate-dependent cell migration, cell extension | The formation of a cell surface protrusion, such as a lamellipodium or filopodium, at the leading edge of a migrating cell. |
| visual system development | The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BPV8 | P2RY13 | P2Y purinoceptor 13 | Homo sapiens (Human) | PR |
| Q9UPC5 | GPR34 | Probable G-protein coupled receptor 34 | Homo sapiens (Human) | PR |
| Q9CPV9 | P2ry12 | P2Y purinoceptor 12 | Mus musculus (Mouse) | PR |
| Q9D8I2 | P2yr13 | P2Y purinoceptor 13 | Mus musculus (Mouse) | PR |
| Q6GUG4 | P2ry13 | P2Y purinoceptor 13 | Rattus norvegicus (Rat) | PR |
| Q9EPX4 | P2ry12 | P2Y purinoceptor 12 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQAVDNLTSA | PGNTSLCTRD | YKITQVLFPL | LYTVLFFVGL | ITNGLAMRIF | FQIRSKSNFI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IFLKNTVISD | LLMILTFPFK | ILSDAKLGTG | PLRTFVCQVT | SVIFYFTMYI | SISFLGLITI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DRYQKTTRPF | KTSNPKNLLG | AKILSVVIWA | FMFLLSLPNM | ILTNRQPRDK | NVKKCSFLKS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EFGLVWHEIV | NYICQVIFWI | NFLIVIVCYT | LITKELYRSY | VRTRGVGKVP | RKKVNVKVFI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IIAVFFICFV | PFHFARIPYT | LSQTRDVFDC | TAENTLFYVK | ESTLWLTSLN | ACLDPFIYFF |
| 310 | 320 | 330 | 340 | ||
| LCKSFRNSLI | SMLKCPNSAT | SLSQDNRKKE | QDGGDPNEET | PM |