P58743
PR
Gene name |
SLC26A5 (PRES) |
Protein name |
Prestin |
Names |
Solute carrier family 26 member 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:375611 |
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
5 structures for P58743
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7LGU | EM | 230 A | A/B | 1-744 | PDB |
| 7LGW | EM | 270 A | A/B | 1-744 | PDB |
| 7LH2 | EM | 343 A | A/B | 1-744 | PDB |
| 7LH3 | EM | 430 A | A/B | 1-744 | PDB |
| AF-P58743-F1 | Predicted | AlphaFoldDB |
565 variants for P58743
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA368737962 RCV001336160 rs1346488074 |
31 | R>T | Autosomal recessive nonsyndromic hearing loss 61 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs141952919 RCV000999789 CA178007 RCV000971218 RCV000151914 |
46 | L>P | Autosomal recessive nonsyndromic hearing loss 61 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA149720 RCV000083267 rs431905518 |
70 | W>* | Autosomal recessive nonsyndromic hearing loss 61 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000083266 rs431905517 CA149718 |
130 | R>S | Autosomal recessive nonsyndromic hearing loss 61 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs142159316 CA4419773 RCV002693859 |
173 | A>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA143211 RCV000993011 rs117444825 RCV002504920 RCV000041662 |
330 | N>S | Autosomal recessive nonsyndromic hearing loss 61 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3698079 rs747533690 COSM3698078 RCV002723671 CA4419442 |
551 | L>F | large_intestine Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201060425 COSM1083575 RCV002488793 RCV000762472 CA4419281 |
689 | R>Q | Autosomal recessive nonsyndromic hearing loss 61 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150726851 RCV001732422 RCV002539809 CA4419261 |
726 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1317991587 CA368738706 |
2 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4419891 rs779860416 |
2 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758296903 CA4419890 |
3 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4419889 rs750489794 |
5 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000757779 CA368738638 rs750489794 |
5 | E>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA368738588 rs1328285261 |
7 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765322606 CA4419888 |
8 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4419887 rs761851520 |
9 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1375742194 COSM1699112 RCV001288433 CA368738495 COSM1699113 COSM1699111 |
10 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs754110114 CA4419886 |
11 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs745671191 CA4419885 |
13 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA368738375 rs1328582056 |
14 | Q>H | No |
ClinGen gnomAD |
|
|
COSM1226164 COSM1226166 rs1456091076 CA368738356 COSM1226165 |
15 | R>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4419884 rs371296328 |
16 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775768222 CA4419883 |
17 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419882 rs772472784 |
18 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774687085 CA4419881 |
19 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774687085 CA4419880 |
19 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 21 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478103272 CA368738177 |
21 | P>R | No |
ClinGen gnomAD |
|
|
CA4419878 rs369488256 |
22 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769392775 CA4419879 |
22 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4419876 rs768355980 |
25 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4419875 rs746814046 |
26 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1210302390 CA368738088 |
26 | P>T | No |
ClinGen gnomAD |
|
|
rs1218850482 CA368738070 |
27 | V>F | No |
ClinGen gnomAD |
|
|
CA4419874 rs758296708 |
28 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1221333934 CA368738044 |
29 | Q>K | No |
ClinGen gnomAD |
|
|
COSM1158708 RCV000155433 CA182762 rs727504456 COSM1158707 COSM218899 |
30 | E>G | pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA368737974 rs1433565964 |
31 | R>G | No |
ClinGen gnomAD |
|
|
CA163871596 rs780987159 |
33 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs922133831 CA368737895 |
33 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1433412244 CA368737857 |
34 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 35 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163871592 rs200754394 |
35 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4419873 rs745860023 |
37 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778694088 CA4419872 |
37 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419869 rs753914951 |
38 | V>F | No |
ClinGen ExAC |
|
|
rs753914951 CA368737750 |
38 | V>I | No |
ClinGen ExAC |
|
| TCGA novel | 39 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166123750 CA368737739 |
39 | P>T | No |
ClinGen gnomAD |
|
|
rs201992676 CA163871493 |
42 | I>L | No |
ClinGen Ensembl |
|
|
rs756274353 CA4419867 |
42 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375125710 CA4419866 |
43 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4419865 rs375125710 |
43 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766985801 CA4419863 |
45 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372100608 CA4419861 |
47 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368737461 rs1282589558 |
48 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4419860 rs768443776 |
48 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA163871428 rs886135170 |
49 | A>P | No |
ClinGen TOPMed |
|
|
CA4419859 rs137865848 |
51 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137865848 CA368737319 |
51 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776309814 CA4419844 |
52 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4419843 rs763736398 |
56 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756867607 CA4419842 |
59 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163870980 rs756867607 |
59 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462874037 CA368736994 |
63 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368736957 rs1243160664 |
64 | F>L | No |
ClinGen TOPMed |
|
|
rs775273667 CA4419841 |
64 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA163870952 rs61997196 |
67 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1472364379 CA368736893 |
68 | T>I | No |
ClinGen gnomAD |
|
|
CA368736888 rs1293393087 |
69 | K>Q | No |
ClinGen TOPMed |
|
|
CA4419839 rs745684298 |
73 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773964486 CA4419838 |
78 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4419835 rs777662314 |
81 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1308533296 CA368736654 |
84 | L>F | No |
ClinGen gnomAD |
|
|
CA368736664 rs1350675304 |
84 | L>M | No |
ClinGen gnomAD |
|
|
rs1366283792 CA4419832 |
86 | S>L | No |
ClinGen gnomAD |
|
|
CA4419830 rs781477474 |
87 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs748168710 CA4419831 |
87 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA163870926 rs935975032 |
88 | I>V | No |
ClinGen TOPMed |
|
|
CA4419828 rs560011952 |
90 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364537096 CA368736444 |
96 | P>S | No |
ClinGen gnomAD |
|
|
CA368767647 rs187694846 |
98 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs187694846 CA4419806 |
98 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368767639 rs1326313261 |
100 | A>T | No |
ClinGen TOPMed |
|
|
rs919594715 CA163905638 |
103 | M>V | No |
ClinGen Ensembl |
|
|
rs1394528662 CA368767593 |
107 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401694189 CA368767571 |
110 | I>K | No |
ClinGen gnomAD |
|
|
rs753457590 CA163905608 |
113 | L>P | No |
ClinGen Ensembl |
|
|
rs1450506911 CA368767547 |
114 | Y>C | No |
ClinGen gnomAD |
|
|
CA368767539 rs1436734566 |
115 | S>C | No |
ClinGen gnomAD |
|
|
rs1368772313 CA368767533 |
116 | S>* | No |
ClinGen gnomAD |
|
|
CA368767518 rs1375164927 |
118 | Y>* | No |
ClinGen gnomAD |
|
|
rs757650653 CA4419802 |
118 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA368767512 rs1422886838 |
119 | P>R | No |
ClinGen gnomAD |
|
|
rs1185796780 CA368767516 |
119 | P>S | No |
ClinGen gnomAD |
|
|
rs752277589 CA4419801 |
121 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358873102 CA368767491 |
122 | M>I | No |
ClinGen gnomAD |
|
|
rs766899303 CA4419800 |
122 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1481817068 CA368767487 |
123 | Y>C | No |
ClinGen gnomAD |
|
|
rs764199357 CA163905575 |
125 | F>L | No |
ClinGen Ensembl |
|
|
rs866816051 CA163905569 |
126 | L>F | No |
ClinGen TOPMed |
|
|
CA368767460 rs866816051 |
126 | L>V | No |
ClinGen TOPMed |
|
|
rs975161560 CA163905549 |
127 | G>E | No |
ClinGen TOPMed |
|
|
CA4419799 rs759057968 |
131 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1341321988 CA368767401 |
131 | H>R | No |
ClinGen gnomAD |
|
|
CA368767392 rs1263467884 |
132 | I>V | No |
ClinGen gnomAD |
|
|
rs1480136383 CA368767371 |
133 | S>F | No |
ClinGen TOPMed |
|
|
CA4419783 rs140167043 |
135 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1158782217 CA368767222 |
136 | P>L | No |
ClinGen gnomAD |
|
|
CA4419781 rs754509890 |
139 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA368767174 rs1563560132 |
140 | I>T | No |
ClinGen Ensembl |
|
|
CA163904204 rs369982008 |
144 | I>T | No |
ClinGen ESP |
|
|
rs751000329 CA4419780 |
145 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA368767066 rs1388255646 |
146 | G>D | No |
ClinGen TOPMed |
|
|
CA368767076 rs1468821577 |
146 | G>S | No |
ClinGen gnomAD |
|
|
rs1254672000 CA368767058 |
147 | V>I | No |
ClinGen gnomAD |
|
|
CA4419779 rs766031757 |
149 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3831502 COSM3831501 rs757994723 COSM3831503 CA4419778 |
150 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA163904175 rs1018340849 |
150 | R>Q | No |
ClinGen TOPMed |
|
|
rs1273108314 CA368766903 |
154 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA368766912 rs1352988404 |
154 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1234227146 CA368766895 |
155 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368766869 rs1221109930 |
156 | I>K | No |
ClinGen TOPMed |
|
|
rs886061849 CA10624951 |
158 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 160 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419775 rs761645748 |
160 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487807650 COSM1235251 COSM1235250 CA368766775 COSM1235252 |
162 | V>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA163904162 rs373087571 |
165 | T>A | No |
ClinGen ESP |
|
|
CA163904163 rs373087571 |
165 | T>P | No |
ClinGen ESP |
|
|
rs955249093 CA163904156 |
166 | N>S | No |
ClinGen TOPMed |
|
|
rs1392273906 CA368766679 |
170 | A>P | No |
ClinGen TOPMed |
|
|
COSM1547928 rs1216316708 CA368766668 COSM1547930 COSM1547929 |
171 | R>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA163904143 rs902150458 |
172 | D>H | No |
ClinGen gnomAD |
|
|
CA368766659 rs902150458 |
172 | D>Y | No |
ClinGen gnomAD |
|
|
rs764088354 CA4419774 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775655148 CA4419772 |
178 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4419771 rs772447046 |
179 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA163904097 rs894883941 |
188 | I>V | No |
ClinGen Ensembl |
|
|
rs1216817749 CA368766476 |
190 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4419753 rs767748322 |
191 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4419752 rs759670873 |
192 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368766436 rs1236009414 |
194 | G>C | No |
ClinGen gnomAD |
|
|
rs1239515733 CA368766430 |
195 | V>I | No |
ClinGen TOPMed |
|
|
CA4419750 rs771114775 |
203 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA368766337 rs1282526956 |
207 | E>D | No |
ClinGen gnomAD |
|
|
CA368766309 rs1203673406 |
210 | V>L | No |
ClinGen gnomAD |
|
|
CA4419749 COSM1596612 COSM1596611 rs763236243 COSM1083588 |
211 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA4419748 rs773574721 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748691910 CA4419746 |
214 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4419743 rs745378351 |
216 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163903199 rs745378351 |
216 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778436306 CA368766210 |
219 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4419742 rs778436306 |
219 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs890024187 CA368766193 |
220 | H>L | No |
ClinGen TOPMed |
|
|
rs890024187 CA163903171 |
220 | H>R | No |
ClinGen TOPMed |
|
|
rs1250271087 CA368766172 |
223 | T>A | No |
ClinGen TOPMed |
|
|
rs146515310 CA4419738 |
223 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs146515310 CA368766170 |
223 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA368766159 rs1416866855 |
225 | M>K | No |
ClinGen gnomAD |
|
|
rs1474250822 CA368766118 |
228 | Y>C | No |
ClinGen gnomAD |
|
|
rs1377231669 CA368766123 |
228 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759689487 CA4419735 |
229 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1259726836 CA368766085 |
231 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4419734 rs751595291 |
232 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766530115 CA4419733 |
233 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773273882 CA4419731 |
236 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1596616 CA4419732 COSM1596615 rs759714876 COSM1083586 |
236 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA368765197 rs1352257966 |
238 | S>N | No |
ClinGen TOPMed |
|
|
rs1391716628 CA368765178 |
240 | I>V | No |
ClinGen TOPMed |
|
|
rs71558639 CA163903100 |
242 | S>P | No |
ClinGen gnomAD |
|
|
CA368765143 CA368765144 rs368643773 |
243 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368643773 COSM200086 CA4419727 |
243 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM351478 CA368765133 rs1340778621 |
244 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 245 | Y>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419725 rs770521867 |
245 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770521867 CA4419724 |
245 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301020251 CA368765018 |
246 | S>I | No |
ClinGen gnomAD |
|
|
CA368765009 rs1316372503 |
247 | T>I | No |
ClinGen TOPMed |
|
|
CA4419698 rs370726796 |
248 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA163901217 rs757360564 |
252 | Q>H | No |
ClinGen Ensembl |
|
|
CA368764948 rs1563555061 |
253 | N>H | No |
ClinGen Ensembl |
|
|
rs143631437 CA4419696 |
255 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1005562357 CA163901186 |
256 | N>S | No |
ClinGen Ensembl |
|
|
rs757422158 CA4419693 |
259 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001375293 RCV000735070 CA4419694 rs765458806 |
259 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 261 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419691 rs140028370 |
262 | L>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA163901154 rs140028370 |
262 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA368764838 rs1236369982 |
263 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs760928224 CA4419690 COSM1154720 COSM1083584 COSM1154719 |
264 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776126109 CA4419688 |
269 | F>L | No |
ClinGen ExAC |
|
|
CA368764764 rs1381880489 |
270 | G>D | No |
ClinGen gnomAD |
|
|
rs1407713091 CA368764733 |
273 | L>* | No |
ClinGen gnomAD |
|
|
CA368764720 rs1290846591 |
274 | G>D | No |
ClinGen gnomAD |
|
|
rs762533940 CA4419686 |
275 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772795899 CA4419685 |
277 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1174858639 CA368764657 |
278 | F>L | No |
ClinGen gnomAD |
|
|
CA368764634 rs1437078785 |
279 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371721808 CA368764592 |
281 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419684 rs769598539 |
287 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163901110 rs377501976 |
287 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs776398574 CA4419682 |
288 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758210678 CA4419678 |
293 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368764328 rs1250557547 |
296 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs745847089 | 297 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419659 rs375693784 COSM398846 |
298 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4419658 rs771058832 |
299 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs771058832 CA368762444 |
299 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs144199565 CA4419657 |
300 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212765995 CA368762419 |
303 | I>V | No |
ClinGen gnomAD |
|
|
rs973149089 CA163893435 |
308 | N>D | No |
ClinGen TOPMed |
|
|
rs756237169 CA4419655 |
309 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA4419654 rs753131965 |
311 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1368302198 CA368762361 |
311 | E>V | No |
ClinGen gnomAD |
|
|
rs377335819 CA163893418 |
314 | N>D | No |
ClinGen ESP TOPMed |
|
|
rs1348672403 CA368762341 |
314 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1240409973 CA368762327 |
316 | D>G | No |
ClinGen gnomAD |
|
|
rs1278986731 CA368762331 |
316 | D>N | No |
ClinGen gnomAD |
|
|
COSM3662823 rs150015080 CA4419652 COSM3662825 COSM3662824 |
318 | V>I | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776513034 CA163893372 |
319 | G>E | No |
ClinGen gnomAD |
|
|
CA4419651 rs755369730 |
320 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419650 rs752167861 |
322 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368762288 rs1383645089 |
323 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368762281 rs1407131211 |
324 | G>V | No |
ClinGen TOPMed |
|
|
CA4419638 rs774341468 |
327 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586258621 CA368761007 |
330 | N>H | No |
ClinGen Ensembl |
|
| TCGA novel | 332 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1040158857 CA163889681 |
332 | D>G | No |
ClinGen TOPMed |
|
|
CA368760968 rs749387225 |
333 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419636 rs777670775 |
333 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749387225 CA4419637 |
333 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368760953 rs1184487376 |
334 | S>T | No |
ClinGen gnomAD |
|
|
CA368760924 rs1467787320 |
336 | F>C | No |
ClinGen TOPMed |
|
|
CA368760907 rs1241800625 |
337 | H>Q | No |
ClinGen gnomAD |
|
|
CA368760902 rs769882421 |
338 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769882421 CA4419635 |
338 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748365094 CA4419634 |
339 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4419632 rs150887104 |
341 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1444452202 CA368760823 |
344 | I>T | No |
ClinGen TOPMed |
|
|
CA4419630 rs780718756 |
345 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368760800 rs1339124665 |
346 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368760802 rs1339124665 |
346 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 347 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270460306 CA368760773 |
348 | I>T | No |
ClinGen gnomAD |
|
|
CA4419628 rs753419968 |
349 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163889588 rs993716925 |
349 | V>I | No |
ClinGen gnomAD |
|
|
rs369253299 CA4419627 |
351 | F>L | No |
ClinGen ESP ExAC |
|
| TCGA novel | 352 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419626 rs755628714 |
354 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs767155090 CA4419624 |
356 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA368760653 rs1168212400 |
357 | M>T | No |
ClinGen gnomAD |
|
|
CA4419623 rs759333430 |
359 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419922787 CA368760459 |
365 | H>R | No |
ClinGen gnomAD |
|
|
CA4419621 rs766330752 |
368 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs774077787 COSM315280 CA4419622 |
368 | Q>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1250251421 CA368760349 |
369 | V>I | No |
ClinGen TOPMed |
|
|
CA4419620 rs762833771 |
371 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368760305 rs762833771 |
371 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762833771 CA368760306 |
371 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261492676 CA368760234 |
373 | Q>H | No |
ClinGen gnomAD |
|
|
CA368759658 rs1301907461 |
375 | L>F | No |
ClinGen gnomAD |
|
|
CA368759647 rs866196186 |
376 | I>L | No |
ClinGen gnomAD |
|
|
CA163888532 rs866196186 |
376 | I>V | No |
ClinGen gnomAD |
|
|
CA368759622 rs1223164173 |
377 | A>V | No |
ClinGen gnomAD |
|
|
rs746240630 CA4419591 |
379 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs757765693 CA4419589 |
384 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419588 rs747657738 |
384 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757765693 CA4419590 |
384 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1446939 COSM1446938 COSM1446937 rs780646345 CA4419587 |
385 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1310999762 CA368759480 |
387 | L>H | No |
ClinGen TOPMed |
|
|
rs1228311565 CA368759485 |
387 | L>V | No |
ClinGen TOPMed |
|
|
rs576599754 CA4419585 |
389 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1156926479 CA368759374 |
393 | I>T | No |
ClinGen gnomAD |
|
|
rs555983287 CA163888505 |
393 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1223723121 CA368759361 |
394 | S>* | No |
ClinGen TOPMed |
|
|
rs765138134 CA4419581 |
399 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368759308 rs765138134 |
399 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA368759307 COSM3431038 COSM3431037 rs1181023877 COSM3431036 |
399 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA368759301 rs1453005855 |
400 | S>N | No |
ClinGen gnomAD |
|
|
rs1191438954 CA368759286 |
402 | V>A | No |
ClinGen gnomAD |
|
|
rs761780277 CA4419580 |
404 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA368759266 rs1179413005 |
405 | G>E | No |
ClinGen gnomAD |
|
|
rs753787701 CA4419579 |
406 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs372387853 CA4419576 |
407 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562854182 CA163888473 |
409 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1180098827 CA368759238 |
410 | T>S | No |
ClinGen TOPMed |
|
|
rs368745441 CA4419575 |
411 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163887639 rs1014473408 |
412 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 412 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419556 rs774392061 |
413 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4419557 rs759769294 |
413 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4419555 rs139393039 |
415 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368758984 rs1477916057 |
420 | M>I | No |
ClinGen gnomAD |
|
|
rs796208180 CA163887614 |
420 | M>T | No |
ClinGen Ensembl |
|
|
rs147328805 CA4419553 |
424 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368758925 rs147328805 |
424 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4419554 rs147328805 |
424 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368758913 rs1177257016 |
425 | I>V | No |
ClinGen TOPMed |
|
|
rs1185248290 CA368758845 |
428 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368758783 rs1202074307 |
432 | F>V | No |
ClinGen gnomAD |
|
|
rs763369160 CA4419536 |
438 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs773544931 CA368757466 |
441 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419535 rs773544931 |
441 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137932625 CA4419533 |
442 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs567404774 CA4419532 |
443 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4419531 rs143428699 |
445 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs931450231 CA163886843 |
445 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4419528 rs749141441 |
447 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419529 rs749141441 |
447 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749141441 CA4419530 |
447 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368757327 rs1460546623 |
448 | L>P | No |
ClinGen gnomAD |
|
|
rs1390837580 CA368757280 |
450 | G>E | No |
ClinGen gnomAD |
|
|
CA163886804 rs998388079 |
451 | M>V | No |
ClinGen TOPMed |
|
|
CA368757228 rs777676306 |
452 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4419527 rs777676306 |
452 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1450994742 CA368757159 |
454 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs267601213 CA163886786 |
456 | S>L | No |
ClinGen Ensembl |
|
|
rs1371225839 CA368757014 |
459 | P>R | No |
ClinGen TOPMed |
|
|
rs748135098 CA4419525 |
460 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs964268194 CA163886772 |
466 | K>R | No |
ClinGen Ensembl |
|
|
CA4419524 rs780929461 |
467 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs891749409 | 469 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000295637 rs202056712 CA4419510 |
470 | T>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1445381645 CA368756762 |
470 | T>P | No |
ClinGen gnomAD |
|
|
CA4419509 rs772947720 |
471 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769720506 CA368756728 |
472 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4419508 rs769720506 |
472 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs747896345 CA4419507 |
474 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1346126104 CA368756672 |
478 | S>F | No |
ClinGen gnomAD |
|
|
CA4419505 rs768459200 |
481 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368756628 rs1365084148 |
483 | G>R | No |
ClinGen TOPMed |
|
|
CA4419503 rs780140550 |
484 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368756600 rs1401773901 |
485 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 485 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA178003 rs727503433 RCV000151912 |
486 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs867502627 CA163886607 |
487 | G>S | No |
ClinGen Ensembl |
|
|
CA4419502 rs371137072 |
489 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368756517 rs1426960146 |
494 | I>V | No |
ClinGen gnomAD |
|
|
CA4419500 rs757706221 |
496 | L>P | No |
ClinGen ExAC gnomAD |
|
| rs1331611808 | 499 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 499 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368756482 rs1194556878 |
500 | I>V | No |
ClinGen gnomAD |
|
|
rs1489306742 CA368756473 |
501 | Y>C | No |
ClinGen gnomAD |
|
|
rs1489306742 CA368756472 |
501 | Y>F | No |
ClinGen gnomAD |
|
|
rs1563516744 CA368755221 |
507 | S>T | No |
ClinGen Ensembl |
|
|
CA4419480 rs756449232 |
509 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4419479 rs753265647 |
510 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368755196 rs1377325510 |
511 | L>F | No |
ClinGen gnomAD |
|
|
rs762612994 CA368755189 |
512 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762612994 CA4419477 |
512 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762612994 CA368755188 |
512 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566208291 CA368755182 CA4419475 |
513 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4419476 rs533683818 |
513 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1164090330 CA368755174 |
515 | P>A | No |
ClinGen gnomAD |
|
|
rs1406025318 CA368755153 |
518 | D>G | No |
ClinGen gnomAD |
|
|
CA163876067 COSM1488093 COSM452084 rs1030680153 |
518 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4419474 rs761406791 |
519 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4419473 rs776299858 |
520 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368755136 rs1439503631 |
521 | I>V | No |
ClinGen gnomAD |
|
|
CA368755116 rs1180135995 |
523 | I>T | No |
ClinGen gnomAD |
|
|
CA368755106 rs1264484744 |
525 | A>T | No |
ClinGen gnomAD |
|
|
CA4419471 rs775471812 |
526 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 528 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163875290 rs564924795 |
529 | V>M | No |
ClinGen Ensembl |
|
|
rs760520761 CA4419454 |
532 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA368754403 rs1300882994 |
532 | I>V | No |
ClinGen gnomAD |
|
|
CA4419453 rs201640138 |
533 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368754370 rs1296344974 |
533 | P>H | No |
ClinGen gnomAD |
|
|
CA368754379 rs201640138 |
533 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368754358 rs1449832871 |
534 | G>R | No |
ClinGen gnomAD |
|
|
rs1399469814 CA368754338 |
535 | I>V | No |
ClinGen gnomAD |
|
|
CA4419452 rs767480377 |
537 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1563515086 CA368754302 |
537 | I>V | No |
ClinGen Ensembl |
|
|
CA4419450 rs774292856 |
539 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419451 rs759499089 |
539 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372938455 CA4419449 |
540 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749319198 CA4419448 |
541 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033174853 CA163875250 |
541 | N>S | No |
ClinGen TOPMed |
|
|
rs906146903 CA163875247 |
542 | A>V | No |
ClinGen TOPMed |
|
|
rs1024496923 CA163875241 |
544 | I>V | No |
ClinGen TOPMed |
|
|
rs773369961 CA4419447 |
546 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420848295 CA368753996 |
549 | S>C | No |
ClinGen gnomAD |
|
|
CA4419445 rs748567955 |
549 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA368753980 rs1265309291 |
550 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 550 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4419443 rs755349314 |
551 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1441271564 CA368753946 |
552 | Y>C | No |
ClinGen TOPMed |
|
|
CA368753952 rs1256310075 |
552 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4419441 rs193110872 RCV000757780 |
553 | S>N | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs193110872 CA4419440 |
553 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368753908 rs1563514928 |
555 | A>T | No |
ClinGen Ensembl |
|
|
rs763702424 CA4419438 COSM1446934 COSM1446933 |
558 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA368753866 rs530952295 |
558 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530952295 CA4419437 |
558 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530952295 CA4419436 |
558 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150152315 CA4419424 |
561 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4419423 rs559797979 |
562 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748788450 CA4419422 |
565 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777371712 CA4419421 |
565 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4419420 rs755570863 |
566 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs146547672 CA4419419 RCV001564494 |
567 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4419418 rs202170366 |
568 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419417 rs754830295 |
569 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368753641 rs1323488860 |
570 | A>V | No |
ClinGen gnomAD |
|
|
CA368753631 rs1369565710 |
571 | R>G | No |
ClinGen TOPMed |
|
|
rs1458334754 CA368753609 |
572 | R>I | No |
ClinGen gnomAD |
|
|
rs751353325 CA4419416 |
573 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs267601212 CA163874200 |
574 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 575 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368753549 rs1453413896 |
575 | M>T | No |
ClinGen TOPMed |
|
|
rs1208198847 CA368753557 |
575 | M>V | No |
ClinGen gnomAD |
|
|
CA4419415 rs766271938 |
576 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM200083 CA4419414 rs762984175 |
576 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA368753529 rs766271938 |
576 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs935917045 CA163874170 |
577 | K>N | No |
ClinGen Ensembl |
|
|
CA4419411 rs199745195 |
579 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777062823 CA4419410 |
579 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419408 rs760993841 |
583 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368753352 rs1209797795 |
584 | N>S | No |
ClinGen TOPMed |
|
|
CA368753258 rs1329339700 |
588 | A>T | No |
ClinGen gnomAD |
|
|
CA368753246 rs1164952863 |
588 | A>V | No |
ClinGen gnomAD |
|
|
rs375613469 CA4419405 CA4419407 |
589 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368753216 rs368889484 |
590 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368889484 CA4419404 |
590 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441305036 CA368753201 |
591 | T>A | No |
ClinGen gnomAD |
|
|
rs1196988095 CA368753115 |
595 | A>E | No |
ClinGen gnomAD |
|
|
CA163874058 rs868432799 |
595 | A>T | No |
ClinGen Ensembl |
|
|
rs1375215064 CA368753010 |
596 | D>G | No |
ClinGen TOPMed |
|
|
CA4419387 rs774901004 |
596 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4419388 rs774901004 |
596 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs548617120 CA4419386 |
597 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1284790860 CA368752977 |
598 | E>D | No |
ClinGen gnomAD |
|
|
CA4419384 rs776152487 |
599 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA368752958 rs1278804821 |
600 | D>G | No |
ClinGen gnomAD |
|
|
CA4419383 COSM1144323 COSM598332 rs768005303 |
600 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4419382 rs746692135 |
601 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 602 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000041658 RCV000911831 CA143205 rs142849754 |
605 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1414809732 CA368752895 |
607 | P>H | No |
ClinGen gnomAD |
|
|
rs758280742 CA4419381 |
607 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4419380 rs745645937 |
609 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs148538056 CA4419379 RCV000596580 |
610 | E>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1029974076 CA163873313 |
612 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1442932231 CA368752750 |
616 | Y>C | No |
ClinGen TOPMed |
|
|
rs144150940 CA4419378 |
617 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368752732 rs144150940 |
617 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753785669 CA4419377 |
618 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419375 rs756088595 |
619 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs764291100 CA4419376 |
619 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373545135 CA4419374 |
622 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767624902 CA4419373 |
623 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs760000364 CA4419372 |
624 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs372586409 COSM1699104 CA4419371 COSM1699103 |
625 | F>Y | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1343334845 CA368752540 |
627 | E>K | No |
ClinGen gnomAD |
|
|
CA4419370 rs766693130 |
632 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4419369 rs763476832 |
633 | M>I | No |
ClinGen ExAC |
|
|
rs1283500757 CA368752389 |
633 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1283500757 CA368752387 |
633 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140378675 CA163873219 |
635 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs567507062 CA4419366 |
636 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4419367 rs768221382 |
636 | G>R | No |
ClinGen ExAC |
|
|
rs1563512375 CA368752241 |
637 | D>G | No |
ClinGen Ensembl |
|
|
rs1449409809 CA368752248 |
637 | D>N | No |
ClinGen TOPMed |
|
|
rs773424722 CA4419365 |
638 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419363 rs142778863 |
639 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757067537 CA4419361 |
645 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368751263 rs532695997 |
647 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473350730 CA368751253 |
647 | T>I | No |
ClinGen gnomAD |
|
|
rs532695997 CA4419360 |
647 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000596540 rs148546326 CA4419359 |
648 | Q>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756281394 CA4419358 |
649 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs895809138 COSM1446925 CA163873075 COSM1446926 |
651 | F>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA368751119 rs1238391584 |
652 | I>T | No |
ClinGen gnomAD |
|
|
CA368751129 rs1563512226 |
652 | I>V | No |
ClinGen Ensembl |
|
|
CA4419356 rs781524264 |
654 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1319367240 CA368751051 |
655 | V>D | No |
ClinGen gnomAD |
|
|
CA4419355 rs755158535 |
657 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs763240933 CA4419353 |
659 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763240933 TCGA novel CA4419352 |
659 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1306722260 CA368750875 |
662 | G>E | No |
ClinGen gnomAD |
|
|
rs772848921 CA4419322 |
663 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs72655382 CA4419323 |
663 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368750703 rs1404504920 |
664 | V>I | No |
ClinGen TOPMed |
|
|
CA4419320 rs748052395 COSM3777978 COSM3777977 |
666 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1378376686 CA368750627 |
667 | Y>C | No |
ClinGen gnomAD |
|
|
CA4419318 rs200013738 |
670 | V>I | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 671 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758589041 CA4419315 |
671 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765594830 CA163872335 |
672 | I>M | No |
ClinGen Ensembl |
|
|
rs1358138369 CA368750464 |
674 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 675 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757581680 CA4419312 |
675 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419310 rs764693699 |
678 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs754303636 CA4419311 |
678 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451333947 CA368750379 |
679 | C>* | No |
ClinGen Ensembl |
|
|
rs1305936312 CA368750382 |
679 | C>Y | No |
ClinGen gnomAD |
|
|
rs374295152 CA4419309 |
680 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368750372 rs1280573352 |
680 | S>N | No |
ClinGen TOPMed |
|
|
rs1334624209 CA368749859 |
682 | Q>K | No |
ClinGen gnomAD |
|
|
CA4419284 rs764933655 |
684 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs750112404 CA4419285 |
684 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs773698631 CA163870448 |
686 | D>A | No |
ClinGen Ensembl |
|
|
CA4419283 rs761566343 |
687 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA163870447 rs1048678442 |
687 | L>I | No |
ClinGen TOPMed |
|
|
rs1371309189 CA368749817 |
688 | T>I | No |
ClinGen Ensembl |
|
|
rs776378925 CA4419282 |
689 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA163870365 rs748351403 |
690 | N>S | No |
ClinGen Ensembl |
|
| rs765836781 | 693 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs556040012 CA4419275 |
694 | E>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA163870303 rs1010658012 |
694 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368749756 rs1340119482 |
698 | L>V | No |
ClinGen gnomAD |
|
|
CA163870279 rs975101593 |
700 | E>D | No |
ClinGen TOPMed |
|
|
rs749651702 CA4419273 |
704 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778310722 CA4419272 |
706 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370979775 CA163870275 |
708 | D>N | No |
ClinGen ESP |
|
|
CA4419270 rs140924882 |
709 | A>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA368749646 rs1374277010 |
714 | Q>R | No |
ClinGen gnomAD |
|
|
rs1345268769 CA368749621 |
718 | A>T | No |
ClinGen TOPMed |
|
|
rs894992680 CA163870262 |
719 | L>P | No |
ClinGen Ensembl |
|
|
CA368749606 rs1563507442 |
720 | A>G | No |
ClinGen Ensembl |
|
|
CA163870232 rs867425791 |
721 | E>* | No |
ClinGen Ensembl |
|
|
CA4419268 rs147292144 |
721 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144115730 CA4419267 |
723 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4419266 rs749931726 |
724 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778471150 CA4419263 |
725 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778471150 CA368749574 |
725 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763891500 CA4419260 |
727 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368749566 rs1197693125 |
727 | P>S | No |
ClinGen TOPMed |
|
|
rs752696864 CA4419259 |
728 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA368749561 rs767475182 |
728 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767475182 CA4419257 |
728 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4419258 rs752696864 |
728 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs567147888 CA163870177 |
729 | S>F | No |
ClinGen 1000Genomes TOPMed |
|
|
CA163870178 rs567147888 |
729 | S>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4419255 rs774454351 |
732 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770873038 CA4419254 |
733 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4419252 rs773508366 |
734 | E>D | No |
ClinGen ExAC |
|
|
rs1225252874 CA368749524 |
734 | E>G | No |
ClinGen gnomAD |
|
|
CA4419253 rs763288306 |
734 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748512964 CA4419250 |
735 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748512964 CA368749518 |
735 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419251 rs770352769 |
735 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4419249 rs781777872 |
736 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4419248 rs769180143 |
737 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 737 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 738 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200923483 CA4419247 |
738 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA368749498 rs1304842493 |
739 | P>S | No |
ClinGen gnomAD |
|
|
CA368749483 rs1359609345 |
741 | T>I | No |
ClinGen gnomAD |
|
|
rs756665732 CA4419245 |
742 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 742 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368749464 rs1429796491 |
744 | A>V | No |
ClinGen TOPMed |
|
|
CA163870062 rs958613587 |
745 | A>Q | No |
ClinGen TOPMed gnomAD |
No associated diseases with P58743
3 regional properties for P58743
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | 14-3-3 protein, conserved site | 41 - 51 | IPR023409-1 |
| conserved_site | 14-3-3 protein, conserved site | 211 - 230 | IPR023409-2 |
| domain | 14-3-3 domain | 3 - 242 | IPR023410 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| lateral wall of outer hair cell | The lateral wall of an outer hair cell (OHC) is a unique trilaminate composite consisting of the plasma membrane, an underlying cytoskeletal network containing an actin-spectrin cortical lattice, and an adjacent system of circumferential lamellar organelles known as the subsurface cisternae. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| bicarbonate transmembrane transporter activity | Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-. |
| chloride transmembrane transporter activity | Enables the transfer of chloride ions from one side of a membrane to the other. |
| identical protein binding | Binding to an identical protein or proteins. |
| oxalate transmembrane transporter activity | Enables the transfer of oxalate from one side of a membrane to the other. Oxalate, or ethanedioic acid, occurs in many plants and is highly toxic to animals. |
| secondary active sulfate transmembrane transporter activity | Enables the secondary active transfer of sulfate from one side of a membrane to the other. Secondary active transport is the transfer of a solute across a membrane, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Secondary active transporters include symporters and antiporters. |
| spectrin binding | Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers. |
| sulfate transmembrane transporter activity | Enables the transfer of sulfate ions, SO4(2-), from one side of a membrane to the other. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| cochlea development | The progression of the cochlea over time from its formation to the mature structure. The cochlea is the snail-shaped portion of the inner ear that is responsible for the detection of sound. |
| fructose transmembrane transport | The directed movement of fructose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. |
| negative regulation of ion transmembrane transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| positive regulation of cell motility | Any process that activates or increases the frequency, rate or extent of cell motility. |
| positive regulation of cell size | Any process that increases cell size. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| 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 auditory stimulus | 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 auditory stimulus. |
| 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. |
| response to potassium ion | 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 potassium ion stimulus. |
| response to salicylic 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 a salicylic acid stimulus. |
| response to salt | 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 salt stimulus. |
| response to thyroid hormone | 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 thyroid hormone stimulus. |
| response to xenobiotic stimulus | 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 from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| 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. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QNW6 | SLC26A8 | Testis anion transporter 1 | Bos taurus (Bovine) | PR |
| Q96RN1 | SLC26A8 | Testis anion transporter 1 | Homo sapiens (Human) | PR |
| P50443 | SLC26A2 | Sulfate transporter | Homo sapiens (Human) | PR |
| Q8TE54 | SLC26A7 | Anion exchange transporter | Homo sapiens (Human) | PR |
| Q86WA9 | SLC26A11 | Sodium-independent sulfate anion transporter | Homo sapiens (Human) | PR |
| Q9R155 | Slc26a4 | Pendrin | Mus musculus (Mouse) | PR |
| Q9WVC8 | Slc26a3 | Chloride anion exchanger | Mus musculus (Mouse) | PR |
| Q8R0C3 | Slc26a8 | Testis anion transporter 1 | Mus musculus (Mouse) | PR |
| Q99NH7 | Slc26a5 | Prestin | Mus musculus (Mouse) | PR |
| Q924C9 | Slc26a3 | Chloride anion exchanger | Rattus norvegicus (Rat) | PR |
| Q9EPH0 | Slc26a5 | Prestin | Rattus norvegicus (Rat) | PR |
| Q02920 | Early nodulin-70 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9SV13 | SULTR3;1 | Sulfate transporter 3.1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FY46 | SULTR4;1 | Sulfate transporter 4.1, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GYH8 | SULTR4;2 | Probable sulfate transporter 4.2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDHAEENEIL | AATQRYYVER | PIFSHPVLQE | RLHTKDKVPD | SIADKLKQAF | TCTPKKIRNI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IYMFLPITKW | LPAYKFKEYV | LGDLVSGIST | GVLQLPQGLA | FAMLAAVPPI | FGLYSSFYPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IMYCFLGTSR | HISIGPFAVI | SLMIGGVAVR | LVPDDIVIPG | GVNATNGTEA | RDALRVKVAM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SVTLLSGIIQ | FCLGVCRFGF | VAIYLTEPLV | RGFTTAAAVH | VFTSMLKYLF | GVKTKRYSGI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FSVVYSTVAV | LQNVKNLNVC | SLGVGLMVFG | LLLGGKEFNE | RFKEKLPAPI | PLEFFAVVMG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TGISAGFNLK | ESYNVDVVGT | LPLGLLPPAN | PDTSLFHLVY | VDAIAIAIVG | FSVTISMAKT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LANKHGYQVD | GNQELIALGL | CNSIGSLFQT | FSISCSLSRS | LVQEGTGGKT | QLAGCLASLM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ILLVILATGF | LFESLPQAVL | SAIVIVNLKG | MFMQFSDLPF | FWRTSKIELT | IWLTTFVSSL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FLGLDYGLIT | AVIIALLTVI | YRTQSPSYKV | LGKLPETDVY | IDIDAYEEVK | EIPGIKIFQI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NAPIYYANSD | LYSNALKRKT | GVNPAVIMGA | RRKAMRKYAK | EVGNANMANA | TVVKADAEVD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GEDATKPEEE | DGEVKYPPIV | IKSTFPEEMQ | RFMPPGDNVH | TVILDFTQVN | FIDSVGVKTL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AGIVKEYGDV | GIYVYLAGCS | AQVVNDLTRN | RFFENPALWE | LLFHSIHDAV | LGSQLREALA |
| 730 | 740 | ||||
| EQEASAPPSQ | EDLEPNATPA | TPEA |