Q9UBL9
Gene name |
P2RX2 (P2X2) |
Protein name |
P2X purinoceptor 2 |
Names |
P2X2, ATP receptor, Purinergic receptor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22953 |
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
1 structures for Q9UBL9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBL9-F1 | Predicted | AlphaFoldDB |
446 variants for Q9UBL9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_070687 rs587777692 CA170678 RCV000143842 |
60 | V>L | Autosomal dominant nonsyndromic hearing loss 41 DFNA41; found in heterozygous status in patients; abolished ATP-stimulated permeability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2041656946 RCV001197577 |
302 | R>T | Autosomal dominant nonsyndromic hearing loss 41 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001809849 RCV002536052 rs761180947 RCV000825423 CA6891732 |
315 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6891795 RCV002512553 RCV000143843 rs202138002 RCV001268412 CA170681 VAR_070688 |
353 | G>R | Autosomal dominant nonsyndromic hearing loss 41 DFNA41 [ClinVar, UniProt] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD UniProt |
|
CA6891893 RCV000216083 rs115260724 RCV002517491 |
437 | R>Q | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000888770 rs876657423 RCV002500690 RCV000217739 |
441 | I>* | Autosomal dominant nonsyndromic hearing loss 41 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6891902 rs199955493 RCV002529353 RCV000992498 COSM937247 RCV000606884 |
455 | E>K | endometrium Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000842305 RCV002538325 rs369100205 CA6891909 |
470 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6891298 rs751112633 |
3 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6891300 rs780770339 |
4 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049362534 CA246277235 |
4 | A>S | No |
ClinGen TOPMed |
|
|
CA387356513 rs780770339 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466604811 CA387356519 |
5 | Q>R | No |
ClinGen TOPMed |
|
|
CA6891302 rs756595753 |
6 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6891303 rs780673709 |
10 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6891305 CA387356575 rs768809175 |
11 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891308 rs772335034 |
12 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs748252581 CA6891307 |
12 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1286367250 CA387356605 |
14 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387356611 rs1294719479 |
14 | A>V | No |
ClinGen TOPMed |
|
|
CA387356617 rs1194591563 |
15 | R>Q | No |
ClinGen gnomAD |
|
|
rs762889627 CA6891313 |
16 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA387356624 rs762889627 |
16 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA246277311 rs940571411 |
19 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6891314 rs369473481 |
19 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232778680 CA387356652 |
20 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs571646540 CA6891315 RCV000912878 |
21 | C>Y | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA387356675 rs1382780227 |
22 | W>R | No |
ClinGen gnomAD |
|
|
CA6891317 rs767176552 |
24 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6891318 rs750081606 |
25 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA387356743 rs1327987786 |
27 | D>E | No |
ClinGen gnomAD |
|
|
CA387356756 rs756505870 |
29 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891320 rs756505870 |
29 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387356784 rs1444250367 |
31 | P>R | No |
ClinGen gnomAD |
|
|
rs780589773 CA246277323 |
32 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780589773 CA6891321 |
32 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754340878 CA6891322 |
33 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs755546826 CA6891323 |
34 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748249759 CA6891325 |
35 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748249759 CA387356819 |
35 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772097454 CA6891326 |
36 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387356862 rs778028145 |
39 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA387356870 rs747266387 |
40 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891328 rs747266387 |
40 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387356888 rs1344834715 |
42 | G>E | No |
ClinGen gnomAD |
|
|
rs865908587 CA246277374 |
42 | G>R | No |
ClinGen Ensembl |
|
|
CA6891329 rs769517188 |
43 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775265363 CA387356902 |
44 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762799314 CA6891331 |
45 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774203714 CA6891334 |
46 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6891335 rs766964714 |
46 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891333 rs774203714 |
46 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1342253894 CA387356930 |
47 | A>P | No |
ClinGen TOPMed |
|
|
rs754250856 CA6891340 |
54 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs755357127 CA6891342 |
56 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387357242 rs1450203972 |
60 | V>G | No |
ClinGen TOPMed |
|
|
CA6891390 rs770608674 |
62 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA387357304 rs1182471953 |
63 | V>A | No |
ClinGen gnomAD |
|
|
rs1222699160 CA387357367 |
66 | S>N | No |
ClinGen TOPMed |
|
|
CA387357374 rs1566291007 |
66 | S>R | No |
ClinGen Ensembl |
|
|
CA6891392 rs759136054 |
68 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
COSM468041 rs1161893145 CA387357432 |
69 | E>D | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765582415 CA6891393 |
69 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA387357419 rs1318988782 |
69 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1365261530 CA387357448 |
70 | S>N | No |
ClinGen gnomAD |
|
|
RCV000971603 rs143664462 CA6891394 RCV000214475 |
71 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6891395 rs763428922 |
72 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA387357570 rs1378403948 |
75 | E>G | No |
ClinGen gnomAD |
|
|
rs752100041 CA6891397 |
75 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243223620 CA387357591 |
76 | S>T | No |
ClinGen gnomAD |
|
|
CA387357607 rs1313883312 |
77 | S>A | No |
ClinGen gnomAD |
|
|
CA387357627 rs1359774252 |
78 | I>N | No |
ClinGen gnomAD |
|
|
CA6891398 rs757287535 |
81 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1231060654 CA387357706 |
82 | V>I | No |
ClinGen TOPMed |
|
|
CA6891399 rs767604732 |
83 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA246277812 rs867830031 |
84 | G>E | No |
ClinGen Ensembl |
|
|
CA387357793 rs1196243674 |
86 | T>P | No |
ClinGen gnomAD |
|
|
CA6891401 rs756296304 |
89 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1437841625 CA387357888 |
91 | K>E | No |
ClinGen Ensembl |
|
|
rs780392555 CA6891402 |
91 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387357904 rs1405704906 |
92 | V>M | No |
ClinGen TOPMed |
|
|
rs1370219643 CA387357931 |
93 | W>* | No |
ClinGen TOPMed |
|
|
CA387357948 rs1167213231 |
94 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387357947 rs1306205231 |
94 | D>G | No |
ClinGen TOPMed |
|
|
rs368657470 CA246277827 |
95 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA6891404 rs200706884 |
96 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200706884 CA246277834 |
96 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6891406 rs371733590 |
98 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6891409 rs745447786 |
101 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1219040 rs776297473 CA6891408 |
101 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6891410 rs769315673 |
102 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387358160 rs1404170850 |
104 | G>A | No |
ClinGen gnomAD |
|
|
rs755529218 CA6891453 |
104 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755529218 CA387358152 |
104 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA387358171 rs1283847492 |
105 | G>C | No |
ClinGen gnomAD |
|
|
COSM937244 CA6891454 rs779626821 |
105 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387358176 rs779626821 |
105 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246278053 rs897663807 |
106 | S>G | No |
ClinGen gnomAD |
|
|
CA246278063 rs993254582 |
108 | F>V | No |
ClinGen Ensembl |
|
|
rs1217541785 CA387358303 |
111 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387358327 rs1288493239 |
113 | R>G | No |
ClinGen gnomAD |
|
|
CA246278100 rs768292150 |
113 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6891457 rs768292150 |
113 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA387358337 rs1199199574 |
114 | V>I | No |
ClinGen gnomAD |
|
|
rs778595438 CA6891458 |
115 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748489580 CA387358372 |
116 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs748489580 CA6891459 |
116 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1406523346 CA387358410 |
118 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA387358444 rs1385389415 |
120 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs773553832 CA6891461 |
122 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1363404381 CA387358510 |
123 | G>V | No |
ClinGen gnomAD |
|
|
rs1423738254 CA387358534 |
125 | C>Y | No |
ClinGen gnomAD |
|
|
CA6891477 rs758644003 |
129 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs933215158 CA246278226 |
130 | R>K | No |
ClinGen TOPMed |
|
|
CA6891478 rs778216098 |
130 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs747412485 CA6891479 |
131 | V>A | No |
ClinGen ExAC |
|
|
CA387358697 rs1458565943 |
131 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6891480 rs771468485 |
132 | H>Q | No |
ClinGen ExAC |
|
|
rs777322684 CA6891481 |
133 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201946408 CA387358741 CA6891485 |
133 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555298312 CA6891482 |
133 | N>T | No |
ClinGen Ensembl |
|
|
rs775802539 CA6891486 |
134 | A>P | No |
ClinGen ExAC |
|
|
CA387358755 rs1187798176 |
134 | A>V | No |
ClinGen gnomAD |
|
|
rs201624265 CA6891488 |
135 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA387358769 rs1447530745 |
135 | T>S | No |
ClinGen TOPMed |
|
|
CA387358791 rs1566292794 |
137 | L>V | No |
ClinGen Ensembl |
|
|
rs1421546883 CA387358821 |
139 | D>G | No |
ClinGen TOPMed |
|
|
rs767148641 CA6891489 |
139 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387358851 rs1174191721 |
141 | D>N | No |
ClinGen gnomAD |
|
|
COSM547331 RCV000906332 CA6891491 rs201447971 |
142 | C>* | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6891490 rs773055213 |
142 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA387358890 rs1477570064 |
143 | V>M | No |
ClinGen TOPMed |
|
|
CA387358917 rs1335103701 |
144 | A>G | No |
ClinGen gnomAD |
|
|
rs1490904423 CA387358955 |
147 | L>R | No |
ClinGen TOPMed |
|
|
rs1220456657 CA387358949 |
147 | L>V | No |
ClinGen TOPMed |
|
|
CA387358961 rs1429039242 |
148 | D>Y | No |
ClinGen gnomAD |
|
|
CA6891494 rs754447386 |
149 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387358998 rs1261873488 |
150 | L>P | No |
ClinGen gnomAD |
|
|
CA387359034 rs1280267333 |
153 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1280267333 CA387359032 |
153 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6891514 rs759486441 |
153 | G>V | No |
ClinGen ExAC |
|
|
rs764662677 CA6891515 |
154 | L>M | No |
ClinGen ExAC |
|
|
CA6891517 rs762431208 |
156 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387359152 rs1238883862 |
157 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757589735 CA6891520 |
157 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1355473679 CA387359164 |
158 | R>P | No |
ClinGen gnomAD |
|
|
rs1309494741 CA387359158 |
158 | R>S | No |
ClinGen gnomAD |
|
|
rs1040273671 CA246278412 |
159 | C>S | No |
ClinGen Ensembl |
|
|
CA387359171 rs1243349754 |
159 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6891521 rs781698979 |
160 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113796218 CA246278413 |
161 | P>L | No |
ClinGen Ensembl |
|
|
rs1488690731 CA387359222 |
164 | Q>* | No |
ClinGen gnomAD |
|
|
RCV000595698 CA6891522 rs142844880 RCV000891492 |
164 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1248411244 CA387359238 |
165 | G>E | No |
ClinGen gnomAD |
|
|
rs868398885 CA246278419 |
166 | P>T | No |
ClinGen Ensembl |
|
|
CA246278433 rs1005850083 |
168 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387359281 rs1470098705 |
169 | T>P | No |
ClinGen TOPMed |
|
|
rs1161911268 CA387359303 |
170 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA387359298 rs1441732800 |
170 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387359296 rs1441732800 |
170 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1368201924 CA387359309 |
171 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs768659294 CA6891526 |
172 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1593672871 CA387359372 |
176 | C>G | No |
ClinGen Ensembl |
|
|
CA387359391 rs1243244611 |
177 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387359386 rs1378517657 |
177 | P>S | No |
ClinGen gnomAD |
|
|
CA387359384 rs1378517657 |
177 | P>T | No |
ClinGen gnomAD |
|
|
rs1593672989 CA387359404 |
178 | V>G | No |
ClinGen Ensembl |
|
|
CA387359418 rs1593673034 |
179 | E>G | No |
ClinGen Ensembl |
|
|
rs1177876055 CA387359415 |
179 | E>K | No |
ClinGen TOPMed |
|
|
rs1593673080 CA387359431 |
180 | D>A | No |
ClinGen Ensembl |
|
|
CA387359426 rs1322093137 |
180 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6891530 rs776417946 |
183 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1206194739 CA387359479 |
184 | V>I | No |
ClinGen TOPMed |
|
|
CA387359547 rs1218603920 |
186 | Q>L | No |
ClinGen gnomAD |
|
|
CA6891563 rs755446993 |
190 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212494134 CA387359597 |
190 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387359614 rs1217865324 |
191 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA246278713 rs879315490 |
191 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1488591899 CA387359634 |
193 | P>A | No |
ClinGen gnomAD |
|
|
CA6891566 rs150826932 |
193 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387359650 rs1300334539 |
194 | N>D | No |
ClinGen TOPMed |
|
|
rs561154892 CA6891568 |
203 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6891569 rs747250212 |
204 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299761086 CA387359797 |
204 | H>Y | No |
ClinGen gnomAD |
|
|
rs755843325 CA6891570 |
209 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779715451 CA6891571 |
211 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6891603 rs201108603 |
213 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6891602 rs776397183 |
213 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6891605 rs775913429 |
216 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891607 rs764649989 |
217 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA387359923 rs1331098154 |
218 | R>G | No |
ClinGen gnomAD |
|
|
CA246278941 rs896555087 |
218 | R>H | No |
ClinGen gnomAD |
|
|
rs896555087 CA387359925 |
218 | R>L | No |
ClinGen gnomAD |
|
|
CA6891608 rs751623269 |
219 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1285116295 CA387359938 |
220 | D>H | No |
ClinGen gnomAD |
|
|
CA387359948 COSM1706469 rs1217280554 |
221 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1593675654 CA387359956 |
222 | Y>D | No |
ClinGen Ensembl |
|
|
rs1336498754 CA387360002 |
224 | K>N | No |
ClinGen TOPMed |
|
|
rs202099523 CA387360005 |
225 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202099523 CA6891610 |
225 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042398570 CA246279004 |
225 | R>P | No |
ClinGen TOPMed |
|
|
CA387360025 rs1275919121 |
226 | C>F | No |
ClinGen gnomAD |
|
|
rs1187819303 CA387360042 |
227 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387360057 rs926889066 |
228 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs926889066 CA246279023 |
228 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs778864820 CA6891614 |
230 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778864820 CA387360087 |
230 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169677348 CA387360102 |
231 | A>T | No |
ClinGen gnomAD |
|
|
CA246279038 rs1001134980 |
232 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA387360139 rs1593676004 |
233 | D>G | No |
ClinGen Ensembl |
|
|
CA387360130 rs1335122722 COSM170321 |
233 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6891617 rs777917433 |
234 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs777917433 CA6891618 |
234 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6891619 rs770518108 |
235 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111640791 CA6891622 |
236 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6891620 rs780672257 |
236 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6891623 rs775821442 |
238 | I>L | No |
ClinGen ExAC |
|
|
CA6891624 rs763377408 |
240 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891627 rs149982621 |
243 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263659153 CA387360599 |
244 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs114874649 CA387360607 |
245 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs114874649 CA6891629 |
245 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1381392334 CA387360627 |
246 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201299665 CA6891630 |
246 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1017390453 CA246279096 |
248 | A>P | No |
ClinGen Ensembl |
|
|
rs760963996 CA6891631 |
249 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs144300117 CA6891633 |
254 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387360738 rs890204509 |
255 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA246279169 rs890204509 |
255 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs777827527 CA387360755 |
256 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329997785 CA387360751 |
256 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777827527 CA6891635 |
256 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891636 rs751533519 |
257 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1350990565 CA387360770 |
257 | H>Q | No |
ClinGen gnomAD |
|
|
rs751533519 CA6891637 |
257 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1239019079 CA387360776 |
258 | K>E | No |
ClinGen gnomAD |
|
|
CA6891638 rs780770913 |
258 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6891666 rs772626924 |
259 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1396383678 CA387360878 |
260 | G>D | No |
ClinGen TOPMed |
|
|
CA6891668 rs747061410 |
261 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246279733 rs1002580420 |
262 | I>F | No |
ClinGen TOPMed |
|
|
CA387360890 rs1002580420 |
262 | I>L | No |
ClinGen TOPMed |
|
|
rs1256150653 CA387360907 |
263 | G>E | No |
ClinGen gnomAD |
|
|
rs949158238 CA246279737 |
263 | G>R | No |
ClinGen gnomAD |
|
|
rs776950275 CA6891670 |
264 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA387360917 rs1593679482 |
264 | V>G | No |
ClinGen Ensembl |
|
|
CA387360921 rs1198143288 |
265 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387360947 rs1555299075 RCV000602234 |
267 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6891672 rs765617121 |
268 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs774195280 CA6891673 |
269 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6891674 rs761556179 |
269 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs750351580 CA6891676 |
273 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs767470753 CA6891675 |
273 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1477199641 CA387361026 |
274 | L>P | No |
ClinGen gnomAD |
|
|
rs1170481095 CA387361039 |
275 | P>L | No |
ClinGen gnomAD |
|
|
CA6891677 rs200403901 |
276 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1479255984 CA387361046 |
276 | A>V | No |
ClinGen TOPMed |
|
|
rs1033799448 CA246279769 |
277 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1402634738 CA387361062 |
278 | E>G | No |
ClinGen gnomAD |
|
|
CA6891679 rs753431309 |
278 | E>K | No |
ClinGen ExAC |
|
|
CA6891680 rs377716077 |
279 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6891681 rs778495685 |
281 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296306441 CA387361120 |
283 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1309350359 CA387361127 |
284 | S>Y | No |
ClinGen gnomAD |
|
|
CA246279850 rs936722841 |
285 | F>S | No |
ClinGen Ensembl |
|
|
CA6891684 COSM1219041 rs148198140 |
286 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201472876 CA6891683 |
286 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6891686 rs771064092 |
287 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387361169 rs1182169219 |
288 | L>R | No |
ClinGen gnomAD |
|
|
rs1421005550 CA387361176 |
289 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746015866 CA6891688 |
289 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs987761577 CA246279871 |
290 | P>L | No |
ClinGen TOPMed |
|
|
CA387361199 rs1431016095 |
291 | K>R | No |
ClinGen gnomAD |
|
|
CA387361214 rs770029505 |
292 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395355942 CA387361218 |
293 | V>M | No |
ClinGen gnomAD |
|
|
rs140717688 CA6891690 |
296 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6891693 rs771795205 |
300 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165633659 CA387361336 |
303 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000607707 CA387361348 rs1555299245 |
304 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs756154743 CA6891726 |
305 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs756154743 CA387361358 |
305 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1395302805 CA387361376 |
306 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1443480855 CA387361370 |
306 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1395302805 CA387361375 |
306 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6891727 rs115331525 RCV000607950 RCV000917259 |
308 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs115331525 CA6891729 |
308 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1291282397 CA387361414 |
309 | I>M | No |
ClinGen TOPMed |
|
|
rs755150600 CA6891730 |
310 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335340034 CA387361433 |
311 | G>D | No |
ClinGen gnomAD |
|
|
rs1279689415 CA387361440 |
312 | T>A | No |
ClinGen TOPMed |
|
|
CA387361446 rs1218881312 |
312 | T>I | No |
ClinGen TOPMed |
|
|
rs1281596429 CA387361465 |
314 | T>I | No |
ClinGen gnomAD |
|
|
rs372363857 CA6891733 |
315 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150293706 CA6891734 RCV000591945 |
316 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1045973450 CA246280194 |
318 | I>M | No |
ClinGen TOPMed |
|
|
rs1256881029 CA387361536 |
320 | A>G | No |
ClinGen gnomAD |
|
|
CA6891737 rs201474543 RCV000217399 COSM430768 RCV002519645 |
322 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1247799438 CA387361569 |
322 | G>V | No |
ClinGen TOPMed |
|
|
rs762568711 CA6891738 COSM3980930 |
324 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6891739 rs147592928 |
324 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1476809388 CA387361613 |
325 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6891740 rs116100744 |
325 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116655914 CA246280220 |
326 | D>G | No |
ClinGen 1000Genomes |
|
|
rs970612038 CA246280217 |
326 | D>H | No |
ClinGen Ensembl |
|
|
CA6891742 rs768000181 |
327 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139357505 CA6891744 |
328 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs76780477 CA246280242 |
328 | I>V | No |
ClinGen Ensembl |
|
|
rs756566127 CA6891745 |
329 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6891746 rs766978115 |
330 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA387361675 rs1278820297 |
330 | H>Y | No |
ClinGen TOPMed |
|
|
rs755133605 CA6891748 |
332 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA387361920 rs1255196667 |
333 | A>V | No |
ClinGen gnomAD |
|
|
rs771356090 CA6891787 |
334 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760899409 CA6891786 |
334 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771356090 CA387361938 |
334 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046081833 CA246280470 |
336 | F>C | No |
ClinGen Ensembl |
|
|
rs561894191 CA6891788 |
337 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1162029392 CA387361999 |
338 | L>P | No |
ClinGen gnomAD |
|
|
rs1555299483 CA387362014 RCV000614281 |
339 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs906167465 CA246280483 |
340 | P>L | No |
ClinGen Ensembl |
|
|
rs1393057195 CA387362059 |
342 | I>V | No |
ClinGen gnomAD |
|
|
rs1314648954 CA387362124 |
346 | A>V | No |
ClinGen TOPMed |
|
|
rs752766258 CA6891791 |
350 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775460016 RCV000908592 CA6891793 |
352 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA387363062 rs1486261484 |
357 | F>C | No |
ClinGen gnomAD |
|
|
CA6891818 rs752713564 |
358 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6891821 rs746554350 |
359 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170700205 CA387363071 |
359 | C>R | No |
ClinGen gnomAD |
|
|
rs777355172 CA6891820 |
359 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6891825 rs770177827 |
360 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780860942 CA387363076 |
360 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780860942 CA6891823 |
360 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6891824 rs780860942 |
360 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296309697 CA387363084 |
361 | W>* | No |
ClinGen gnomAD |
|
|
CA6891827 rs775913281 |
362 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246280700 rs983002437 |
362 | I>V | No |
ClinGen Ensembl |
|
|
RCV000607612 CA6891828 rs749812549 |
364 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA387363111 rs1309414461 |
365 | T>I | No |
ClinGen gnomAD |
|
|
rs201485923 CA6891829 |
366 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387363124 CA6891830 rs774485135 |
367 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201321737 CA246280727 |
367 | M>K | No |
ClinGen Ensembl |
|
|
rs201321737 CA246280725 |
367 | M>R | No |
ClinGen Ensembl |
|
|
CA246280737 rs113241189 |
369 | K>R | No |
ClinGen Ensembl |
|
|
CA246280739 rs941562361 |
370 | N>H | No |
ClinGen Ensembl |
|
|
rs1349107834 CA387363153 |
371 | K>N | No |
ClinGen gnomAD |
|
|
CA246280741 rs1033258318 |
372 | V>D | No |
ClinGen TOPMed |
|
|
rs1213601122 CA387363157 |
372 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1213601122 CA387363155 |
372 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6891835 rs773590042 |
373 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6891833 rs767759087 |
373 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6891834 rs773590042 |
373 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA387363168 rs1593684649 |
374 | S>N | No |
ClinGen Ensembl |
|
|
CA6891836 rs773934258 |
375 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893386902 CA246280758 |
376 | K>* | No |
ClinGen TOPMed |
|
|
rs1279125378 CA387363182 |
376 | K>T | No |
ClinGen TOPMed |
|
|
CA6891837 rs143626910 |
378 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6891839 rs764001111 |
379 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891838 rs114151103 |
379 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329757630 CA387363219 |
381 | V>A | No |
ClinGen TOPMed |
|
|
CA246280777 rs761552731 |
381 | V>M | No |
ClinGen Ensembl |
|
|
rs548457571 CA6891842 |
382 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370189963 CA6891844 |
383 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6891846 rs148054613 |
384 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387363244 rs1237030479 |
385 | S>R | No |
ClinGen gnomAD |
|
|
CA6891849 rs553849528 |
388 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1217163568 CA387363288 |
391 | W>* | No |
ClinGen gnomAD |
|
|
rs878899758 CA246280827 |
391 | W>R | No |
ClinGen Ensembl |
|
|
CA6891850 rs772308854 |
392 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760990570 CA6891852 |
395 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs556494905 CA6891854 |
397 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556494905 CA387363359 |
397 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141857771 CA6891855 |
397 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593685219 CA387363375 |
398 | V>E | No |
ClinGen Ensembl |
|
|
CA387363370 rs1273956077 |
398 | V>I | No |
ClinGen TOPMed |
|
|
CA6891857 rs751486651 |
399 | L>F | No |
ClinGen ExAC |
|
|
RCV000518988 CA246280853 rs759939326 |
400 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1011180649 CA246280854 |
401 | Q>* | No |
ClinGen gnomAD |
|
|
CA6891858 rs373803068 |
401 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767032379 CA6891859 |
402 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA387363434 rs1459999983 |
402 | A>S | No |
ClinGen gnomAD |
|
|
rs755760731 CA387363471 |
405 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779722185 CA387363479 CA6891862 |
405 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6891861 rs755760731 |
405 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6891863 rs754210919 |
406 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246280908 rs867974944 |
407 | G>D | No |
ClinGen gnomAD |
|
|
rs199712315 CA6891865 RCV000220673 |
407 | G>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs140087499 CA6891866 |
409 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772221200 CA6891867 COSM3688079 |
409 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6891870 rs200711869 |
411 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6891871 rs776765359 |
411 | E>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000222087 rs374200273 CA6891872 |
412 | D>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6891873 rs572316980 |
413 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1593685762 CA387363603 |
414 | H>P | No |
ClinGen Ensembl |
|
|
rs1164255695 CA387363615 |
415 | P>S | No |
ClinGen gnomAD |
|
|
rs879170214 CA246280942 |
416 | S>R | No |
ClinGen gnomAD |
|
|
CA6891875 rs541181992 |
416 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194935507 CA387363650 |
418 | P>L | No |
ClinGen gnomAD |
|
|
CA246280952 rs1040866936 |
420 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749905641 CA6891877 |
422 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA387363707 rs1160442460 |
423 | G>S | No |
ClinGen TOPMed |
|
|
CA6891878 rs760228414 |
424 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA387363724 rs1441268023 |
424 | Q>H | No |
ClinGen gnomAD |
|
|
rs146366658 CA6891879 |
425 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368368224 CA246280982 |
425 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA387363738 rs1293314878 |
426 | G>R | No |
ClinGen gnomAD |
|
|
rs755302767 CA6891881 |
427 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387363758 rs1307844378 |
428 | E>K | No |
ClinGen gnomAD |
|
|
rs1307844378 CA387363760 |
428 | E>Q | No |
ClinGen gnomAD |
|
|
CA246280999 rs992121099 |
428 | E>V | No |
ClinGen Ensembl |
|
|
rs753164240 CA6891884 |
430 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1485277585 CA387363783 |
430 | G>D | No |
ClinGen gnomAD |
|
|
rs753164240 CA387363781 |
430 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6891885 rs564037943 |
431 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6891886 rs116421542 |
432 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387363797 rs1258282432 |
432 | A>T | No |
ClinGen gnomAD |
|
|
CA387363802 rs116421542 |
432 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387363815 rs747059527 |
433 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6891888 rs757432630 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1353166905 CA387363818 |
434 | P>S | No |
ClinGen TOPMed |
|
|
CA6891890 rs746094191 |
435 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387363841 rs1314064244 |
436 | L>P | No |
ClinGen gnomAD |
|
|
CA6891892 rs372642283 |
437 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339575034 CA387363852 |
438 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA387363853 rs1339575034 |
438 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1339575034 CA387363851 |
438 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6891896 rs773157753 |
441 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs1230191772 CA387363904 |
442 | S>F | No |
ClinGen gnomAD |
|
|
CA387363922 rs1277899873 |
444 | P>L | No |
ClinGen gnomAD |
|
|
rs981868579 CA246281067 |
444 | P>S | No |
ClinGen Ensembl |
|
|
CA387363929 rs1211507168 |
445 | S>F | No |
ClinGen gnomAD |
|
|
rs1445225053 CA387363934 |
446 | E>K | No |
ClinGen gnomAD |
|
|
CA6891899 rs776287649 |
448 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241625388 CA387363997 |
451 | T>A | No |
ClinGen gnomAD |
|
|
CA387364018 rs1402757753 |
453 | A>T | No |
ClinGen gnomAD |
|
|
CA387364023 rs1161219750 |
453 | A>V | No |
ClinGen TOPMed |
|
|
CA246281104 rs79467877 |
454 | S>P | No |
ClinGen Ensembl |
|
|
CA387364048 rs1566301987 |
457 | A>T | No |
ClinGen Ensembl |
|
|
rs758878194 CA6891903 |
459 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6891905 rs368231244 |
459 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1399468114 CA387364107 |
465 | P>S | No |
ClinGen gnomAD |
|
|
rs1326556794 CA387364114 |
466 | K>Q | No |
ClinGen gnomAD |
|
|
CA387364134 rs1289837293 |
467 | G>V | No |
ClinGen TOPMed |
|
|
CA387364143 rs1358975414 |
468 | L>F | No |
ClinGen TOPMed |
|
|
CA6891908 rs781121767 |
468 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369100205 CA387364161 |
470 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780374044 CA6891911 |
472 | L>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9UBL9
[MIM: 608224]: Deafness, autosomal dominant, 41 (DFNA41)
A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO:0000269|PubMed:23345450, ECO:0000269|PubMed:24211385}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO:0000269|PubMed:23345450, ECO:0000269|PubMed:24211385}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9UBL9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UBL9 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| integral component of nuclear inner membrane | The component of the nuclear inner 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. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| extracellularly ATP-gated cation channel activity | Enables the transmembrane transfer of a cation by a channel that opens when ATP is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane. |
| identical protein binding | Binding to an identical protein or proteins. |
| ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
| purinergic nucleotide receptor activity | Combining with a purine nucleotide and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| behavioral response to pain | Any process that results in a change in the behavior of an organism as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli. |
| detection of hypoxic conditions in blood by carotid body chemoreceptor signaling | The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies. |
| neuromuscular junction development | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. |
| neuromuscular synaptic transmission | The process of synaptic transmission from a neuron to a muscle, across a synapse. |
| peristalsis | A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards. |
| positive regulation of calcium ion transport into cytosol | Any process that increases the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components. |
| positive regulation of calcium-mediated signaling | Any process that activates or increases the frequency, rate or extent of calcium-mediated signaling. |
| response to ATP | 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 ATP (adenosine 5'-triphosphate) stimulus. |
| response to carbohydrate | 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 carbohydrate stimulus. |
| response to hypoxia | 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| sensory perception of taste | The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. |
| skeletal muscle fiber development | The process whose specific outcome is the progression of the skeletal muscle fiber over time, from its formation to the mature structure. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. |
| urinary bladder smooth muscle contraction | A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAQPKYPA | GATARRLARG | CWSALWDYET | PKVIVVRNRR | LGVLYRAVQL | LILLYFVWYV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FIVQKSYQES | ETGPESSIIT | KVKGITTSEH | KVWDVEEYVK | PPEGGSVFSI | ITRVEATHSQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TQGTCPESIR | VHNATCLSDA | DCVAGELDML | GNGLRTGRCV | PYYQGPSKTC | EVFGWCPVED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GASVSQFLGT | MAPNFTILIK | NSIHYPKFHF | SKGNIADRTD | GYLKRCTFHE | ASDLYCPIFK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LGFIVEKAGE | SFTELAHKGG | VIGVIINWDC | DLDLPASECN | PKYSFRRLDP | KHVPASSGYN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FRFAKYYKIN | GTTTRTLIKA | YGIRIDVIVH | GQAGKFSLIP | TIINLATALT | SVGVGSFLCD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WILLTFMNKN | KVYSHKKFDK | VCTPSHPSGS | WPVTLARVLG | QAPPEPGHRS | EDQHPSPPSG |
| 430 | 440 | 450 | 460 | 470 | |
| QEGQQGAECG | PAFPPLRPCP | ISAPSEQMVD | TPASEPAQAS | TPTDPKGLAQ | L |