Q8TE54
PR
Gene name |
SLC26A7 |
Protein name |
Anion exchange transporter |
Names |
Solute carrier family 26 member 7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:115111 |
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 Q8TE54
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TE54-F1 | Predicted | AlphaFoldDB |
589 variants for Q8TE54
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4805554 RCV001028069 rs774517670 |
500 | Q>* | Congenital hypothyroidism [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| TCGA novel | 2 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371828580 rs1300001119 |
3 | G>* | No |
ClinGen TOPMed |
|
|
rs756422021 CA4805046 |
3 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1333679061 CA371828588 |
4 | A>G | No |
ClinGen gnomAD |
|
|
CA4805047 rs764366425 |
5 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805048 rs753719929 |
8 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371828641 rs1244446806 |
11 | M>I | No |
ClinGen gnomAD |
|
|
rs1291634108 CA371828647 |
12 | L>H | No |
ClinGen gnomAD |
|
|
rs757117136 CA4805049 |
14 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA371828678 rs375132680 |
16 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375132680 CA4805050 |
16 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745876636 CA4805051 |
17 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA181801261 rs868105742 |
17 | H>Y | No |
ClinGen Ensembl |
|
|
CA371828689 rs1563643067 |
18 | T>A | No |
ClinGen Ensembl |
|
|
CA181801262 rs1051372457 |
18 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1182719199 CA371828698 |
19 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs940680247 CA181801263 |
20 | Q>H | No |
ClinGen Ensembl |
|
| rs749030792 | 20 | Q>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371828709 rs1441264557 |
21 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1181492648 CA371828726 |
23 | D>G | No |
ClinGen gnomAD |
|
|
CA181801264 rs746463705 |
24 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs142617028 CA4805056 |
24 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4805055 rs746463705 |
24 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371828740 rs1164560795 |
25 | I>M | No |
ClinGen gnomAD |
|
|
CA371828735 rs1371197122 |
25 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4805060 rs771372610 |
27 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA371828751 rs1012330244 |
27 | W>* | No |
ClinGen Ensembl |
|
|
COSM1553447 CA4805059 COSM1553448 rs771372610 |
27 | W>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1012330244 CA181801265 |
27 | W>L | No |
ClinGen Ensembl |
|
|
rs747722623 CA4805058 |
27 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs901597379 CA181801266 |
29 | R>I | No |
ClinGen Ensembl |
|
|
CA371828773 rs1402941500 |
30 | R>S | No |
ClinGen gnomAD |
|
|
rs760098026 CA4805062 |
31 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760098026 CA4805061 |
31 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204702760 CA371828788 |
33 | P>R | No |
ClinGen TOPMed |
|
|
CA371828785 rs1314773572 |
33 | P>S | No |
ClinGen gnomAD |
|
|
rs1314773572 CA371828783 |
33 | P>T | No |
ClinGen gnomAD |
|
|
CA371828796 rs1341654815 |
35 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA181801267 rs1045212334 |
37 | W>L | No |
ClinGen Ensembl |
|
|
CA371828821 rs1247624094 |
38 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4805063 rs775737061 |
38 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196626743 CA371828824 |
39 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 40 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181801268 rs1004399625 |
40 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA181801269 rs1038503458 |
41 | Y>C | No |
ClinGen TOPMed |
|
|
CA4805065 rs764239991 |
42 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805068 rs765146924 |
51 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4805069 rs750118497 |
52 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA371828914 rs1370863657 |
52 | V>L | No |
ClinGen gnomAD |
|
|
CA371828918 rs1170732257 |
53 | S>P | No |
ClinGen gnomAD |
|
|
CA4805070 rs200788056 |
55 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779916432 CA4805071 |
55 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4805073 rs754521460 |
56 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751099381 CA4805072 |
56 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA371828941 rs1398321919 |
57 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1398321919 CA371828942 |
57 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1316795928 CA371828950 |
58 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1367401726 CA371828956 |
59 | V>F | No |
ClinGen TOPMed |
|
|
CA4805074 rs780656558 |
60 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1031229613 CA371828965 |
60 | Q>H | No |
ClinGen gnomAD |
|
|
CA371828988 rs1280156052 |
64 | Q>E | No |
ClinGen gnomAD |
|
|
rs751545060 CA4805090 |
65 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371664406 rs1190545563 |
67 | A>V | No |
ClinGen TOPMed |
|
|
CA371664458 rs1434522087 |
70 | V>A | No |
ClinGen gnomAD |
|
|
CA4805092 rs780817853 |
70 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4805093 rs752076788 |
71 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777254486 CA4805095 |
74 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA181306848 rs199933773 |
75 | H>L | No |
ClinGen gnomAD |
|
|
CA371664524 rs199933773 |
75 | H>P | No |
ClinGen gnomAD |
|
|
CA371664540 rs1294164086 |
76 | P>A | No |
ClinGen gnomAD |
|
|
rs1294164086 CA371664543 |
76 | P>S | No |
ClinGen gnomAD |
|
|
CA371664584 rs1370084332 |
79 | G>C | No |
ClinGen gnomAD |
|
|
CA371664586 rs1368061045 |
79 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1586367510 CA371664625 |
81 | Y>* | No |
ClinGen Ensembl |
|
|
rs748942459 CA4805096 |
81 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1375804070 CA371664633 |
82 | G>A | No |
ClinGen gnomAD |
|
|
CA4805097 rs758885919 |
82 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4805099 rs370041331 |
83 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748128559 CA181306891 |
84 | L>Q | No |
ClinGen Ensembl |
|
|
rs1268679144 CA371664669 |
85 | F>S | No |
ClinGen TOPMed |
|
|
rs374551631 CA4805102 |
86 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4805103 rs748126263 |
89 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA181306907 rs139913412 |
92 | I>L | No |
ClinGen ESP TOPMed |
|
|
CA4805104 rs529585864 |
92 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139913412 CA181306903 |
92 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1237976681 CA371664732 |
95 | M>T | No |
ClinGen gnomAD |
|
|
rs866779922 CA181306917 |
96 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA371664746 rs1451826147 |
97 | H>L | No |
ClinGen TOPMed |
|
|
CA181306923 rs769711218 |
97 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA371664753 rs1563662006 |
98 | H>R | No |
ClinGen Ensembl |
|
|
rs763137544 CA4805106 |
101 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1212339226 | 102 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805127 rs759290343 |
103 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 106 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371667136 rs1265224531 |
106 | L>V | No |
ClinGen TOPMed |
|
|
rs767315598 CA4805128 |
110 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371667202 rs1318234752 |
110 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805129 rs775341911 |
112 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763579870 CA371667241 |
114 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763579870 CA4805131 |
114 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142137657 CA4805133 |
115 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764933002 CA181310444 |
117 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764933002 CA4805134 |
117 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371667269 rs1193114782 |
117 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4805135 rs376775334 |
118 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs955165563 CA181310473 |
119 | V>A | No |
ClinGen Ensembl |
|
|
rs755336667 CA181310454 |
119 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755336667 CA4805136 |
119 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755336667 CA371667291 |
119 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781597823 CA4805137 |
120 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751119372 CA181310477 |
122 | N>D | No |
ClinGen Ensembl |
|
|
rs753198864 CA4805139 |
122 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1360878946 CA371667351 |
123 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1399800496 CA371667360 |
124 | Q>R | No |
ClinGen TOPMed |
|
|
CA4805140 rs367745813 |
126 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4805141 rs190149973 |
127 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1258062243 CA371667418 |
129 | Q>* | No |
ClinGen gnomAD |
|
|
rs1343815679 CA371667468 |
132 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs561154188 CA4805144 |
133 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs139871019 CA4805146 |
134 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM400704 CA4805147 rs771823537 |
136 | G>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs973924106 CA181310535 |
137 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs775351792 CA4805148 |
137 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA371667539 rs1246391759 |
138 | S>F | No |
ClinGen gnomAD |
|
|
rs1315326711 CA371667567 |
139 | D>E | No |
ClinGen TOPMed |
|
|
COSM1226178 CA4805150 rs139056221 COSM1226179 |
139 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4805152 rs761366431 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1157926782 COSM1151170 CA371667630 COSM751474 |
143 | Q>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4805154 rs750147903 |
145 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762652637 CA4805155 |
146 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1330211130 CA371667709 |
146 | H>L | No |
ClinGen gnomAD |
|
|
rs759206869 CA4805156 |
146 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586375785 CA371667719 |
147 | V>D | No |
ClinGen Ensembl |
|
| TCGA novel | 147 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276979479 CA371667715 |
147 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371667758 rs1240099005 |
149 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA181310568 rs931667469 |
150 | A>T | No |
ClinGen TOPMed |
|
|
CA4805158 rs756588558 |
151 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805159 rs778200759 |
154 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA371667823 rs1457380668 |
155 | G>A | No |
ClinGen TOPMed |
|
|
CA371671945 rs1280768283 |
161 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371671950 rs1367413403 |
161 | A>V | No |
ClinGen gnomAD |
|
|
CA371671957 rs1164471323 |
162 | M>I | No |
ClinGen gnomAD |
|
|
rs1313951676 CA371671955 |
162 | M>T | No |
ClinGen gnomAD |
|
|
CA4805186 rs754869989 |
167 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs748161482 CA4805188 |
170 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs149883220 CA4805189 |
171 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4805190 rs772609318 |
173 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371672023 rs772609318 |
173 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805191 rs748779061 |
177 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 180 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759179986 CA4805194 |
181 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371672117 rs1474930032 |
182 | M>K | No |
ClinGen TOPMed |
|
|
rs147555587 CA4805195 |
182 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950517310 CA371672135 |
183 | T>K | No |
ClinGen TOPMed |
|
|
rs950517310 CA181326544 |
183 | T>R | No |
ClinGen TOPMed |
|
|
CA371672143 COSM1597868 rs1586403256 COSM1102387 |
184 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 185 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371672171 rs1255446523 |
186 | A>S | No |
ClinGen gnomAD |
|
|
rs1586403289 CA371672198 |
187 | A>V | No |
ClinGen Ensembl |
|
|
rs200036884 COSM1151171 CA181326568 COSM751473 |
188 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA4805198 rs765684058 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1586403309 CA371672226 |
189 | H>R | No |
ClinGen Ensembl |
|
|
rs1170882717 CA371672237 |
190 | V>A | No |
ClinGen gnomAD |
|
|
CA371672234 rs1477297734 |
190 | V>L | No |
ClinGen gnomAD |
|
|
CA371672243 rs1426278840 |
191 | V>L | No |
ClinGen gnomAD |
|
|
rs1464895991 CA371672258 |
192 | T>A | No |
ClinGen gnomAD |
|
|
rs750500236 CA4805199 |
196 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4805200 rs758544779 |
198 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766345949 CA4805201 |
198 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1586403382 CA371672318 |
200 | G>E | No |
ClinGen Ensembl |
|
|
rs755245272 CA4805203 |
203 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs142644231 CA181326613 |
203 | M>T | No |
ClinGen ESP |
|
|
rs747891059 CA4805205 |
204 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4805204 rs781135695 |
204 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4805206 rs756138193 |
205 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4805208 rs749163107 |
206 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868782173 CA371672366 |
207 | S>C | No |
ClinGen gnomAD |
|
|
CA181326645 rs868782173 |
207 | S>F | No |
ClinGen gnomAD |
|
|
rs1380558664 CA371672370 |
208 | G>E | No |
ClinGen TOPMed |
|
|
CA4805210 COSM1597867 COSM1102388 rs371049814 |
208 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4805211 rs745527909 |
209 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs970233650 CA181326672 |
211 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs970233650 CA371672386 |
211 | G>V | No |
ClinGen TOPMed |
|
|
rs148980548 CA4805213 |
213 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771655704 CA4805212 |
213 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1303936034 CA371663175 |
215 | I>T | No |
ClinGen gnomAD |
|
|
CA4805234 VAR_053666 rs16912250 |
215 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4805235 rs773445324 |
216 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4805238 rs774591613 |
222 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA371663404 rs1308534945 |
223 | I>N | No |
ClinGen gnomAD |
|
|
CA181296395 rs920394221 |
224 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1265712348 CA371663431 |
224 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753028751 CA4805241 |
226 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767670791 CA4805240 |
226 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1102389 COSM1597866 CA4805243 rs200934477 |
227 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs148109530 CA4805246 |
227 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4805245 rs148109530 |
227 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_088113 | 228 | L>del | probable disease-associated variant found in patients with thyroid dyshormonogenesis and congenital goitrous hypothyroidism [UniProt] | No | UniProt |
|
rs757953992 CA4805250 |
229 | E>D | No |
ClinGen ExAC |
|
|
rs750331548 CA4805249 |
229 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1308164300 CA371663543 |
230 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779525267 CA4805251 |
230 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 232 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746729261 CA4805252 |
232 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805253 rs367860020 |
234 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915578075 CA181296458 |
235 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778212161 CA4805254 |
237 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778212161 CA371663692 |
237 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4805255 rs749562146 |
238 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447453088 CA371663737 |
239 | V>G | No |
ClinGen gnomAD |
|
|
CA4805256 rs771495319 |
240 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs760094718 CA4805259 |
243 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760094718 CA4805258 |
243 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371663781 rs1336497978 |
244 | V>F | No |
ClinGen gnomAD |
|
|
CA371663777 rs1336497978 |
244 | V>I | No |
ClinGen gnomAD |
|
|
rs1216348693 CA371663852 |
250 | Q>P | No |
ClinGen gnomAD |
|
|
rs1257841643 CA371663865 |
251 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318985368 CA371663923 |
255 | I>T | No |
ClinGen gnomAD |
|
|
rs775647004 CA4805260 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1236286913 CA371663938 |
257 | V>I | No |
ClinGen gnomAD |
|
|
CA4805262 rs764177428 |
258 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805264 rs776520984 |
259 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs776520984 COSM370272 CA4805263 |
259 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA181296513 rs764996558 |
261 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4805265 rs764996558 COSM1553442 COSM1553441 |
261 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA371663988 rs1191129523 |
262 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA371663982 rs1422695887 |
262 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758325963 CA4805267 |
265 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805286 rs368908475 |
266 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181298361 rs575564636 |
266 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 267 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181298369 rs964552818 |
268 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA371664383 rs964552818 |
268 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1393956142 CA371664392 |
269 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751108219 CA4805287 |
269 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372360121 CA4805288 |
270 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488057930 CA371664420 |
272 | A>S | No |
ClinGen gnomAD |
|
|
rs1488057930 CA371664417 |
272 | A>T | No |
ClinGen gnomAD |
|
|
CA371664434 rs1194006085 |
273 | C>F | No |
ClinGen gnomAD |
|
|
rs932847886 CA181298393 |
275 | C>* | No |
ClinGen Ensembl |
|
|
CA4805291 rs558386821 |
275 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558386821 CA181298389 |
275 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408003739 CA371664469 |
276 | T>I | No |
ClinGen gnomAD |
|
|
CA4805292 rs779436045 |
277 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA4805294 rs759009588 |
278 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA4805293 rs746190868 |
278 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371664488 rs1321133869 |
278 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 280 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747528391 CA4805296 |
281 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4805297 rs768677858 |
282 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA371664541 rs1317321427 |
283 | G>R | No |
ClinGen gnomAD |
|
|
CA181298402 COSM1458586 rs551956309 COSM1458587 |
285 | E>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4805298 rs776766536 |
285 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs955354624 CA181298410 |
286 | V>L | No |
ClinGen TOPMed |
|
|
rs1226649210 CA371664593 |
287 | V>A | No |
ClinGen gnomAD |
|
|
CA4805299 rs748320411 |
287 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA371664597 rs1234165346 |
288 | G>S | No |
ClinGen gnomAD |
|
|
CA4805303 rs267602041 |
291 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4805305 rs774201792 |
292 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4805304 rs144989855 |
292 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371664644 COSM1597865 rs144989855 COSM1102391 |
292 | Q>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1358935151 CA371664652 |
293 | G>E | No |
ClinGen TOPMed |
|
|
rs774189101 CA4805326 |
294 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA181299366 rs138790226 |
295 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138790226 CA4805327 |
295 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371665122 rs1163492049 |
297 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs571671432 CA4805329 |
298 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1226502488 COSM606507 COSM1145155 CA371665146 |
300 | P>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1251671084 CA371665149 |
300 | P>H | No |
ClinGen gnomAD |
|
|
rs753604205 CA4805332 |
301 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4805333 rs753604205 |
301 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763675249 CA4805331 |
301 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805334 rs376099807 |
302 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371665182 rs1368743845 |
303 | N>S | No |
ClinGen TOPMed |
|
|
COSM3942815 CA4805335 rs751893372 COSM3942816 |
305 | L>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs755461565 CA371665211 |
306 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs755461565 CA4805336 |
306 | S>F | No |
ClinGen ExAC TOPMed |
|
|
rs773027913 CA181299390 |
307 | A>T | No |
ClinGen Ensembl |
|
|
CA4805337 rs142703308 |
307 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371665233 rs1563687985 |
309 | I>F | No |
ClinGen Ensembl |
|
|
rs966396595 CA181299417 |
309 | I>N | No |
ClinGen Ensembl |
|
|
CA371665239 rs542520358 |
310 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4805340 rs542520358 |
310 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1438412466 CA371665252 |
311 | E>A | No |
ClinGen TOPMed |
|
|
CA371665283 COSM1226176 rs560847740 COSM1226177 CA4805342 |
314 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs778598056 CA4805343 |
315 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4805346 rs202113427 |
319 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139932833 CA4805347 |
320 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA181299434 rs955084735 |
321 | V>M | No |
ClinGen TOPMed |
|
|
rs746930852 CA4805348 |
323 | S>T | No |
ClinGen ExAC |
|
|
CA371665389 rs1302638220 |
325 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4805350 rs776215880 |
326 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1487764581 CA371665410 |
328 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371665440 rs1290697772 |
330 | S>Y | No |
ClinGen TOPMed |
|
|
CA371665472 rs1205305945 |
333 | K>R | No |
ClinGen gnomAD |
|
|
CA181299471 rs1008639339 |
335 | K>R | No |
ClinGen TOPMed |
|
|
rs761568901 CA4805351 |
336 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4805354 rs759985605 |
338 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778062991 CA4805353 |
338 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371665561 rs1406653354 |
340 | D>E | No |
ClinGen TOPMed |
|
|
rs1156940925 CA371665563 |
341 | N>H | No |
ClinGen gnomAD |
|
|
CA371665579 rs1454529261 |
341 | N>K | No |
ClinGen gnomAD |
|
|
CA371665575 rs1379714135 |
341 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3745684 CA181300946 rs866023753 COSM3745683 |
343 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA371665764 rs866023753 |
343 | E>Q | No |
ClinGen gnomAD |
|
|
rs769400801 CA181300968 |
346 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4805390 rs748013509 |
346 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805391 rs769400801 |
346 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs182135636 CA4805393 |
347 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113085952 RCV000950169 CA4805394 |
349 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775866265 CA4805395 |
350 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377593422 CA4805396 |
351 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377593422 CA371665891 |
351 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181300996 rs886501123 |
353 | V>A | No |
ClinGen Ensembl |
|
|
rs1258921730 CA371665935 |
353 | V>F | No |
ClinGen TOPMed |
|
|
CA181301000 rs867801751 |
355 | S>L | No |
ClinGen Ensembl |
|
|
CA371665981 rs1418460934 |
356 | F>Y | No |
ClinGen gnomAD |
|
|
rs535640012 CA4805398 |
358 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA181301021 rs201059898 |
359 | C>S | No |
ClinGen gnomAD |
|
|
CA4805399 rs762222560 |
360 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4805400 rs765365401 |
363 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA371666101 rs1376899484 |
365 | A>S | No |
ClinGen gnomAD |
|
|
CA4805401 rs750412971 |
365 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4805402 rs763260445 |
367 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4805403 rs766666333 |
369 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1347773657 CA371666152 |
370 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805406 rs144527864 |
374 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs752743364 CA4805407 |
374 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1241341685 CA371666244 |
376 | G>E | No |
ClinGen gnomAD |
|
|
rs755934254 CA4805408 |
377 | A>T | No |
ClinGen ExAC |
|
|
rs777347613 CA4805409 |
377 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181301074 rs777287310 |
378 | K>R | No |
ClinGen TOPMed |
|
|
rs982576904 CA181301075 |
379 | T>R | No |
ClinGen TOPMed |
|
|
rs1453649929 CA371666324 |
380 | Q>* | No |
ClinGen gnomAD |
|
|
CA4805410 rs748708807 |
380 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs34921316 VAR_053667 CA181305200 |
381 | V>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA4805428 rs753793088 |
381 | V>M | No |
ClinGen ExAC |
|
|
rs756819522 CA4805429 |
382 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA181305237 rs529581587 |
382 | A>V | No |
ClinGen Ensembl |
|
|
rs1462460893 CA371667884 |
384 | L>R | No |
ClinGen gnomAD |
|
|
CA371667881 rs1394146066 |
384 | L>V | No |
ClinGen gnomAD |
|
|
rs778390916 CA4805430 |
385 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745528172 CA4805431 |
386 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371667896 rs1441646254 |
387 | C>S | No |
ClinGen gnomAD |
|
|
rs1280140711 CA371667899 |
387 | C>Y | No |
ClinGen gnomAD |
|
|
CA371667910 rs1375813109 |
388 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4805432 rs534992251 |
389 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371678026 CA4805434 |
390 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1452636948 CA371667926 |
391 | L>P | No |
ClinGen TOPMed |
|
|
rs773637789 CA4805436 |
394 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805437 rs749796249 |
395 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1036717197 CA181305278 |
396 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1400204243 CA371667966 |
397 | I>M | No |
ClinGen gnomAD |
|
|
CA371667961 rs1470973242 |
397 | I>V | No |
ClinGen gnomAD |
|
|
rs1185299077 CA371667968 |
398 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771201365 CA4805438 |
399 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371667981 rs1475770004 |
400 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371667980 rs1475770004 |
400 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4805440 rs759849627 |
402 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371668013 rs1356312640 |
405 | P>A | No |
ClinGen gnomAD |
|
|
CA371668017 rs1412979788 |
405 | P>L | No |
ClinGen gnomAD |
|
|
CA371668014 rs1356312640 |
405 | P>S | No |
ClinGen gnomAD |
|
|
CA4805459 rs774593792 |
407 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs745901501 CA4805460 |
407 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324430777 CA371668048 |
408 | V>F | No |
ClinGen gnomAD |
|
|
rs1270753696 CA371668053 |
409 | L>F | No |
ClinGen gnomAD |
|
|
CA181305887 rs534291572 |
413 | I>M | No |
ClinGen Ensembl |
|
|
CA371668102 rs1586443547 RCV000999053 |
416 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA181305901 rs1016342109 |
417 | L>R | No |
ClinGen Ensembl |
|
|
rs760947621 CA4805463 |
418 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1385685670 CA371668126 |
420 | M>I | No |
ClinGen TOPMed |
|
|
CA4805465 rs776356328 |
422 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4805466 TCGA novel rs761765468 |
423 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs937925687 CA181305916 |
423 | Q>R | No |
ClinGen TOPMed |
|
|
CA371668152 rs771692177 |
424 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765123184 CA4805467 |
425 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147565233 COSM1102396 CA4805468 COSM1597862 |
425 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4805469 rs762416675 |
426 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1477674022 CA371668161 |
426 | D>G | No |
ClinGen TOPMed |
|
|
CA371668169 CA4805470 rs562708766 |
427 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs751233540 CA4805471 |
430 | Y>C | No |
ClinGen ExAC gnomAD |
|
| rs1453046666 | 430 | Y>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778011920 CA4805473 |
431 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs532960963 CA371668204 |
431 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532960963 CA4805472 |
431 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 435 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949220309 CA181306036 |
437 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs949220309 CA371668323 |
437 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA371668337 rs993642667 |
438 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs993642667 CA181306044 |
438 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1019905731 CA181311359 |
440 | I>T | No |
ClinGen Ensembl |
|
|
rs1007291690 CA181311361 |
442 | V>A | No |
ClinGen TOPMed |
|
|
CA181311366 rs1017319548 |
443 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 445 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330884809 CA371669679 |
446 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758882629 CA4805497 |
448 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs150217540 CA181311367 |
448 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4805498 rs780024221 |
453 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4805499 rs747075043 |
454 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145779342 RCV000954944 CA4805500 |
455 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781445117 CA4805501 COSM1314262 COSM1314263 |
456 | G>A | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781445117 CA371669796 |
456 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4805502 rs748354443 |
458 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772920905 CA4805504 |
460 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs772920905 CA371669847 |
460 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4805505 rs762807253 |
461 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs908589344 CA371669909 |
465 | I>K | No |
ClinGen gnomAD |
|
|
rs908589344 CA181311419 |
465 | I>T | No |
ClinGen gnomAD |
|
|
CA181311414 rs200046463 |
465 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1289887767 CA371669917 |
466 | A>T | No |
ClinGen gnomAD |
|
|
CA371669921 rs1353169881 |
466 | A>V | No |
ClinGen gnomAD |
|
|
CA4805507 rs773764201 |
467 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181311420 rs201956264 |
467 | I>V | No |
ClinGen 1000Genomes |
|
|
rs938796549 CA181311421 |
468 | V>A | No |
ClinGen gnomAD |
|
|
CA4805508 rs559274101 |
471 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA181311423 rs916103823 |
471 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs916103823 CA181311424 |
471 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371670075 rs1239402333 |
475 | A>V | No |
ClinGen gnomAD |
|
|
CA371670102 rs1184549856 |
478 | V>L | No |
ClinGen gnomAD |
|
|
rs774394859 CA4805525 |
480 | I>T | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 482 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745790203 CA4805526 |
482 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1322004391 CA371670165 |
483 | M>K | No |
ClinGen TOPMed |
|
|
CA371670160 rs1449934769 |
483 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 485 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140569478 CA4805527 |
485 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA181312103 COSM3432610 COSM3432609 rs150461912 |
486 | M>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs145295424 CA181312106 |
490 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145295424 CA4805529 |
490 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763426816 CA4805532 |
494 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4805531 rs776120600 |
494 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs766642601 CA371670320 |
495 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA371670311 rs1378051762 |
495 | D>H | No |
ClinGen TOPMed |
|
|
CA4805551 rs149167044 |
497 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371670888 rs1221738534 |
497 | E>G | No |
ClinGen gnomAD |
|
|
rs1468317049 CA371670902 |
498 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4805552 rs761364134 |
498 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1412185398 CA371670916 |
499 | L>P | No |
ClinGen gnomAD |
|
| VAR_088114 | 501 | Q>del | probable disease-associated variant found in patients with thyroid dyshormonogenesis and congenital goitrous hypothyroidism; loss of membrane localization and iodide transporter activity [UniProt] | No | UniProt |
|
CA4805555 rs760054849 |
504 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146529797 CA4805556 |
507 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325663354 CA371671096 |
510 | P>A | No |
ClinGen gnomAD |
|
|
rs201387170 CA4805557 |
510 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201387170 CA371671106 |
510 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371671101 rs1325663354 |
510 | P>S | No |
ClinGen gnomAD |
|
|
CA371671122 rs1586459128 |
511 | L>P | No |
ClinGen Ensembl |
|
|
rs764066515 CA371671125 |
512 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4805559 rs764066515 |
512 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371671248 COSM1265815 COSM1265816 rs1230077431 |
519 | F>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM353612 CA371671265 rs1405661477 |
519 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs141931769 CA4805564 |
521 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1228786803 CA371671307 |
522 | D>Y | No |
ClinGen gnomAD |
|
|
rs1265174113 CA371671329 |
523 | L>* | No |
ClinGen gnomAD |
|
|
rs914303060 CA181313877 |
523 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA371671326 rs1265174113 |
523 | L>S | No |
ClinGen gnomAD |
|
|
CA181313920 rs755173902 |
524 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs755173902 CA4805566 |
524 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1203134475 CA371671358 |
525 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371671354 rs1203134475 |
525 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780192961 CA4805567 |
525 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1102399 CA4805568 rs144916953 COSM1597858 |
526 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA371671376 rs1193125592 |
526 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1481690859 CA371671404 |
527 | I>S | No |
ClinGen TOPMed |
|
|
CA371671456 CA371671458 rs1186319592 |
529 | K>N | No |
ClinGen gnomAD |
|
|
rs35781790 CA4805569 |
531 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473433135 CA371671479 |
531 | N>S | No |
ClinGen gnomAD |
|
|
rs377097824 CA4805570 |
532 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1496940 rs370346859 CA181313928 COSM1496939 |
533 | C>R | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
| TCGA novel | 535 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371671570 rs1409460284 |
536 | P>L | No |
ClinGen gnomAD |
|
|
CA371671559 rs1417925641 |
536 | P>S | No |
ClinGen gnomAD |
|
|
CA371671578 rs943722884 |
537 | L>H | No |
ClinGen TOPMed |
|
|
CA181313929 rs943722884 |
537 | L>R | No |
ClinGen TOPMed |
|
|
rs1372705007 CA371671608 |
539 | D>G | No |
ClinGen gnomAD |
|
|
rs573637383 CA4805571 |
539 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1316821687 CA371671623 |
540 | I>V | No |
ClinGen TOPMed |
|
|
CA4805572 rs769277057 CA371671645 |
541 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 542 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181313945 TCGA novel rs1037324503 |
542 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA371672079 rs780772579 |
543 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780772579 CA4805589 |
543 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805590 rs148276214 |
546 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371672120 rs1250392751 |
547 | T>A | No |
ClinGen gnomAD |
|
|
rs141322766 CA4805592 |
549 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772490660 CA4805594 |
551 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371672163 rs1255128003 |
551 | S>T | No |
ClinGen TOPMed |
|
|
CA4805596 rs747575289 |
554 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456468110 CA371672203 COSM1624278 COSM1624279 |
555 | G>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 556 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371672242 rs1390665980 |
558 | N>H | No |
ClinGen gnomAD |
|
|
CA371672246 rs1586462773 |
558 | N>S | No |
ClinGen Ensembl |
|
|
rs1333395439 CA371674062 |
559 | E>A | No |
ClinGen gnomAD |
|
|
CA4805618 rs777066552 |
560 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs200867943 CA4805621 |
564 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4805622 rs200867943 |
564 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA181330948 rs976881429 |
565 | C>* | No |
ClinGen Ensembl |
|
|
CA371674103 rs1586482376 |
565 | C>F | No |
ClinGen Ensembl |
|
|
rs766666162 CA4805623 |
566 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 568 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4805624 rs774598824 |
570 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA371674136 rs1483498984 |
570 | C>R | No |
ClinGen gnomAD |
|
|
CA4805625 rs34411388 |
571 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4805626 rs767328098 |
573 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371674214 rs1164023729 |
574 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4805627 rs752642990 |
577 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805628 rs756011483 |
579 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs763617487 CA4805629 |
580 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 583 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371674313 rs1353985752 |
583 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395754096 CA371674360 |
587 | V>G | No |
ClinGen gnomAD |
|
|
rs1314078892 CA371674393 |
590 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371674411 rs1247484746 |
591 | V>L | No |
ClinGen TOPMed |
|
| rs908857542 | 592 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781221719 CA181330998 |
592 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764060979 CA4805647 |
594 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA371827716 rs1314042286 |
595 | M>T | No |
ClinGen gnomAD |
|
|
CA181802578 rs900662070 |
595 | M>V | No |
ClinGen Ensembl |
|
|
rs1380994649 CA371827730 |
597 | C>R | No |
ClinGen gnomAD |
|
|
rs534829399 CA4805649 |
598 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371827749 COSM1145162 rs1366049850 COSM606500 |
599 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA181802579 rs994982913 |
603 | D>V | No |
ClinGen TOPMed |
|
|
rs764801205 CA4805650 |
604 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4805651 rs750053327 |
605 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs750053327 CA181802580 |
605 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1484217111 CA371827803 |
608 | H>P | No |
ClinGen gnomAD |
|
|
CA181802581 rs1005104837 |
608 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA371827813 rs1357604579 |
609 | C>F | No |
ClinGen TOPMed |
|
|
rs1186626316 CA371827809 |
609 | C>R | No |
ClinGen gnomAD |
|
|
rs1586487298 CA371827859 |
614 | I>M | No |
ClinGen Ensembl |
|
|
CA371827871 rs1487852574 |
616 | A>E | No |
ClinGen gnomAD |
|
|
CA371827868 rs1244447361 |
616 | A>T | No |
ClinGen gnomAD |
|
|
rs751876266 CA4805670 |
618 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374558658 CA4805672 |
619 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413416946 CA371827898 |
620 | Y>C | No |
ClinGen gnomAD |
|
|
rs751231993 CA4805673 |
620 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA371827956 rs1173425005 |
628 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs149495064 CA371827958 |
629 | I>F | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA4805680 rs149495064 |
629 | I>V | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA4805685 rs778880199 |
630 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs147166039 CA4805684 |
630 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371827978 rs1449120209 |
632 | E>* | No |
ClinGen TOPMed |
|
|
CA4805687 rs746000830 |
632 | E>D | No |
ClinGen ExAC TOPMed |
|
|
COSM1700342 CA4805688 COSM1700341 rs376746577 |
633 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA371827984 rs1230190701 |
633 | S>T | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371827989 rs1221576655 |
634 | V>I | No |
ClinGen gnomAD |
|
|
CA371828000 rs1248164648 |
635 | S>F | No |
ClinGen gnomAD |
|
|
rs1563717757 CA371828002 |
636 | A>T | No |
ClinGen Ensembl |
|
|
rs776356342 CA4805692 |
637 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371828007 rs1181969326 |
637 | A>T | No |
ClinGen gnomAD |
|
|
COSM1643656 COSM1643657 CA181802586 rs911894730 |
638 | I>V | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs748109355 CA4805694 |
639 | S>G | No |
ClinGen ExAC |
|
|
rs1413627993 CA371828027 |
640 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371828028 rs1406029142 |
640 | H>R | No |
ClinGen gnomAD |
|
|
rs1413627993 CA371828025 |
640 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1166990975 CA371828039 |
641 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4805696 rs769727201 |
644 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180236007 CA371828058 |
644 | N>S | No |
ClinGen TOPMed |
|
|
rs771695938 CA4805739 |
648 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs984762915 CA181802670 |
652 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 653 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371828266 rs1331323319 |
653 | H>R | No |
ClinGen gnomAD |
|
|
rs775350667 CA4805740 |
653 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4805742 rs760180934 |
654 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760180934 CA4805741 |
654 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165296305 CA371828276 |
655 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773402742 CA4805744 COSM3413158 |
656 | V>I | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs763549753 CA4805745 |
657 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
No associated diseases with Q8TE54
Functions
6 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. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| recycling endosome membrane | The lipid bilayer surrounding a recycling endosome. |
5 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 channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| chloride transmembrane transporter activity | Enables the transfer of chloride ions from one side of a membrane to the other. |
| 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. |
| sulfate transmembrane transporter activity | Enables the transfer of sulfate ions, SO4(2-), from one side of a membrane to the other. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| anion transport | The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| bicarbonate transport | The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| gastric acid secretion | The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| oxalate transport | The directed movement of oxalate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Oxalate, or ethanedioic acid, occurs in many plants and is highly toxic to animals. |
| sulfate transport | The directed movement of sulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
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 |
| P58743 | SLC26A5 | Prestin | 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 |
| Q99NH7 | Slc26a5 | Prestin | Mus musculus (Mouse) | PR |
| Q8R0C3 | Slc26a8 | Testis anion transporter 1 | 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 |
| MTGAKRKKKS | MLWSKMHTPQ | CEDIIQWCRR | RLPILDWAPH | YNLKENLLPD | TVSGIMLAVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QVTQGLAFAV | LSSVHPVFGL | YGSLFPAIIY | AIFGMGHHVA | TGTFALTSLI | SANAVERIVP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QNMQNLTTQS | NTSVLGLSDF | EMQRIHVAAA | VSFLGGVIQV | AMFVLQLGSA | TFVVTEPVIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AMTTGAATHV | VTSQVKYLLG | MKMPYISGPL | GFFYIYAYVF | ENIKSVRLEA | LLLSLLSIVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVLVKELNEQ | FKRKIKVVLP | VDLVLIIAAS | FACYCTNMEN | TYGLEVVGHI | PQGIPSPRAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PMNILSAVIT | EAFGVALVGY | VASLALAQGS | AKKFKYSIDD | NQEFLAHGLS | NIVSSFFFCI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSAAAMGRTA | GLYSTGAKTQ | VACLISCIFV | LIVIYAIGPL | LYWLPMCVLA | SIIVVGLKGM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LIQFRDLKKY | WNVDKIDWGI | WVSTYVFTIC | FAANVGLLFG | VVCTIAIVIG | RFPRAMTVSI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KNMKEMEFKV | KTEMDSETLQ | QVKIISINNP | LVFLNAKKFY | TDLMNMIQKE | NACNQPLDDI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SKCEQNTLLN | SLSNGNCNEE | ASQSCPNEKC | YLILDCSGFT | FFDYSGVSML | VEVYMDCKGR |
| 610 | 620 | 630 | 640 | 650 | |
| SVDVLLAHCT | ASLIKAMTYY | GNLDSEKPIF | FESVSAAISH | IHSNKNLSKL | SDHSEV |