O00341
PR
Gene name |
SLC1A7 |
Protein name |
Excitatory amino acid transporter 5 |
Names |
Retinal glutamate transporter, Solute carrier family 1 member 7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6512 |
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 O00341
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O00341-F1 | Predicted | AlphaFoldDB |
550 variants for O00341
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA858873 rs768073621 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA340399736 rs1553165963 |
2 | V>M | No |
ClinGen Ensembl |
|
|
rs762380862 CA858872 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762380862 CA340399728 |
3 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858869 rs367774000 |
5 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367774000 CA340399714 |
5 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs922045390 CA22643139 |
6 | I>V | No |
ClinGen TOPMed |
|
|
rs770118008 CA858867 |
9 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775886126 CA858868 |
9 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776562082 CA858865 |
10 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs745715389 CA858866 |
10 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA340399691 rs745715389 |
10 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA858862 COSM1162886 rs558157079 CA858863 |
12 | D>E | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA340399678 rs1257920854 |
12 | D>Y | No |
ClinGen TOPMed |
|
|
CA858861 rs757953562 |
13 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747576180 CA858860 |
16 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470674418 CA340399652 |
16 | R>W | No |
ClinGen TOPMed |
|
|
CA22643015 rs950975857 |
21 | I>T | No |
ClinGen TOPMed |
|
|
rs1422339411 CA340399600 |
21 | I>V | No |
ClinGen gnomAD |
|
|
CA22642996 rs149496740 |
26 | S>F | No |
ClinGen ESP gnomAD |
|
|
rs750855965 CA858857 |
27 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA858858 rs754615862 |
27 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985167612 CA340399522 |
28 | I>M | No |
ClinGen gnomAD |
|
|
CA22642980 rs201010691 |
29 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858856 rs201010691 COSM426455 |
29 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764468000 CA858853 |
34 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs763134894 CA858852 |
36 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1428907315 CA340399435 |
37 | L>W | No |
ClinGen gnomAD |
|
|
CA340399429 rs1394633217 |
38 | R>T | No |
ClinGen gnomAD |
|
|
CA340399422 rs1297803287 |
39 | T>N | No |
ClinGen gnomAD |
|
|
CA858850 rs775697947 |
40 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146197658 CA858849 |
40 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775697947 CA340399419 |
40 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035707 CA858848 COSM33064 rs375136400 |
41 | R>C | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs375136400 CA340399415 |
41 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780863782 COSM3360957 CA858847 |
41 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340399416 rs375136400 |
41 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253611438 CA340399363 |
47 | I>T | No |
ClinGen gnomAD |
|
|
CA858833 rs753186097 |
47 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311724117 CA340399356 |
48 | S>N | No |
ClinGen TOPMed |
|
|
rs1212934707 CA340399346 |
49 | Y>C | No |
ClinGen gnomAD |
|
|
rs1259936710 CA340399341 |
50 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA858830 rs777022107 |
54 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766475098 CA858829 |
58 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768170154 CA22635166 |
60 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA858827 rs772873281 |
62 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA340399215 rs1381007581 |
63 | M>V | No |
ClinGen gnomAD |
|
|
CA858825 rs761747001 |
64 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA858826 rs138955039 |
64 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1572350049 CA340399190 |
65 | I>L | No |
ClinGen Ensembl |
|
|
rs774218957 CA858824 |
65 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs774218957 CA340399186 |
65 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA340399153 rs1251648585 |
69 | V>M | No |
ClinGen TOPMed |
|
|
rs529397062 CA340396813 |
73 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs965455070 CA22613341 |
74 | M>V | No |
ClinGen TOPMed |
|
|
CA340396753 rs1192798410 |
76 | G>A | No |
ClinGen gnomAD |
|
|
CA858793 rs146594134 |
76 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA858792 rs756163099 |
77 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA340396726 rs1267857890 |
78 | A>T | No |
ClinGen TOPMed |
|
|
CA340396718 rs1248716428 |
78 | A>V | No |
ClinGen gnomAD |
|
|
rs752966466 CA858791 |
81 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340396647 rs1557681141 |
83 | K>R | No |
ClinGen Ensembl |
|
|
CA340396639 rs1572330483 |
84 | T>P | No |
ClinGen Ensembl |
|
|
rs1421693238 CA340396624 |
85 | S>P | No |
ClinGen TOPMed |
|
|
rs1273823753 CA340396605 |
86 | S>N | No |
ClinGen gnomAD |
|
|
CA858788 COSM247364 rs751334369 |
87 | R>C | oesophagus prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA858789 rs751334369 |
87 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA858787 rs139757854 |
87 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858786 rs139757854 |
87 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858783 rs148436837 |
90 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117636602 CA858780 |
93 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1431054303 CA340396502 |
94 | A>T | No |
ClinGen gnomAD |
|
|
CA340396489 rs1373611400 COSM426454 |
94 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1289040051 CA340396463 |
96 | Y>H | No |
ClinGen TOPMed |
|
|
rs1426995720 CA340396430 |
98 | W>* | No |
ClinGen gnomAD |
|
|
CA340396415 rs1156535276 |
99 | T>I | No |
ClinGen gnomAD |
|
|
rs1469824691 CA340396405 |
100 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1469824691 CA340396404 |
100 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1184462502 CA340396396 |
101 | F>I | No |
ClinGen gnomAD |
|
|
rs780564295 CA858775 |
102 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572330305 CA340395943 |
104 | V>G | No |
ClinGen Ensembl |
|
|
CA858773 rs140456478 |
106 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1572330284 CA340395895 |
107 | G>D | No |
ClinGen Ensembl |
|
|
rs751713137 CA858770 |
108 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA340395892 rs1235801931 |
108 | I>V | No |
ClinGen TOPMed |
|
|
CA22613170 rs561550741 |
109 | F>I | No |
ClinGen 1000Genomes |
|
|
CA340395818 rs1411167963 |
110 | M>K | No |
ClinGen gnomAD |
|
|
CA858768 rs376600368 |
110 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752605960 CA858767 |
111 | V>A | No |
ClinGen ExAC |
|
|
rs765187597 CA858766 |
112 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340395730 rs1360762257 |
113 | I>V | No |
ClinGen gnomAD |
|
|
CA340395661 rs1163945886 |
114 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776189525 CA340395524 |
119 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776189525 CA858764 |
119 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA858763 COSM3419319 rs141274422 |
119 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA22613120 rs374183098 |
120 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA340395472 rs1417232731 |
120 | A>V | No |
ClinGen gnomAD |
|
|
rs1365738893 CA340395374 |
123 | E>K | No |
ClinGen gnomAD |
|
|
rs1484527906 CA340395303 |
124 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA858760 rs769169098 |
125 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs144392698 CA858759 |
125 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858758 rs144392698 |
125 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1379003410 CA340395249 |
127 | Q>K | No |
ClinGen gnomAD |
|
|
CA340395169 rs372121851 |
128 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA858751 rs757269129 |
132 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA340395056 rs1368912304 |
133 | M>I | No |
ClinGen TOPMed |
|
|
rs985546249 CA22613057 |
133 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA858750 rs747252286 |
133 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA858749 rs777930839 |
136 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs149844615 CA858747 |
137 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858746 rs150708334 |
138 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858745 COSM3705926 rs754936929 |
138 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753758796 CA858744 |
140 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA858743 rs766004636 |
141 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs144354595 CA858741 |
143 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763277094 CA340394901 |
144 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775909830 CA858738 COSM224802 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA858739 rs763277094 |
144 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858704 rs751255289 |
146 | M>I | No |
ClinGen ExAC |
|
|
rs1435365341 CA340391301 |
146 | M>R | No |
ClinGen gnomAD |
|
|
CA22604054 rs866304879 |
148 | P>S | No |
ClinGen Ensembl |
|
|
CA858701 rs369559497 |
149 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413551160 CA340391115 |
154 | A>V | No |
ClinGen gnomAD |
|
|
rs148026086 CA858700 |
155 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22604021 rs868589054 |
155 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 158 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466444681 CA340390682 |
159 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs116623976 CA858683 |
160 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858681 rs527517279 |
160 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs527517279 CA858682 |
160 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116623976 CA340390678 |
160 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750974703 CA858680 |
161 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs114930372 CA858679 |
162 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1004095249 CA22601749 |
162 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA858677 rs1312999214 |
164 | T>I | No |
ClinGen TOPMed |
|
|
CA858676 rs1312999214 |
164 | T>S | No |
ClinGen TOPMed |
|
|
CA340390607 rs1366973610 |
165 | P>L | No |
ClinGen gnomAD |
|
|
rs1437660409 CA340390611 |
165 | P>S | No |
ClinGen gnomAD |
|
|
rs371840729 CA858675 |
166 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858674 rs371840729 |
166 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340390573 rs1390804069 |
167 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1557675233 CA340390542 |
169 | S>F | No |
ClinGen Ensembl |
|
|
rs1164435646 CA340390548 |
169 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA858672 rs763272305 |
171 | K>N | No |
ClinGen ExAC |
|
|
rs1034824363 CA22601714 |
171 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775800037 CA858671 |
174 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775800037 CA22601697 |
174 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA858670 rs769734915 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs548352363 CA858668 |
176 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs745618377 CA858669 |
176 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200444900 CA858667 |
177 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198418344 CA340390445 |
177 | A>T | No |
ClinGen gnomAD |
|
|
CA858666 rs200444900 |
177 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22601658 rs531390455 |
178 | P>L | No |
ClinGen 1000Genomes |
|
|
CA858665 rs138304797 |
179 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376678455 CA858663 |
180 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs545783303 CA858664 |
180 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340390426 rs756513740 |
181 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM910767 CA858661 rs756513740 |
181 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778499522 CA858662 |
181 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781754495 CA858660 |
184 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781754495 CA858659 |
184 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557072597 CA858657 |
186 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340390353 rs1324994122 |
188 | Q>R | No |
ClinGen gnomAD |
|
|
CA22601589 rs1006253465 |
190 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 192 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 192 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051181954 CA22601566 |
194 | H>R | No |
ClinGen Ensembl |
|
|
CA858651 rs759432499 |
194 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA22601558 rs932773738 |
196 | Q>R | No |
ClinGen Ensembl |
|
|
rs1412171572 CA340390181 |
198 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340390186 rs1557675107 |
198 | F>V | No |
ClinGen Ensembl |
|
|
CA858649 rs149217403 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA858648 rs760538869 |
199 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA340390149 rs1572316787 |
201 | D>G | No |
ClinGen Ensembl |
|
|
CA858647 rs564834610 |
203 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA858646 rs201338211 |
203 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564834610 CA340390132 |
203 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA858645 rs747628749 |
204 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs368319326 CA858643 |
205 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236306926 CA340390119 |
205 | P>S | No |
ClinGen gnomAD |
|
|
rs1411591731 CA340390114 |
206 | P>S | No |
ClinGen gnomAD |
|
|
rs201914790 CA858641 |
207 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 208 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350290752 CA340390103 |
208 | V>I | No |
ClinGen TOPMed |
|
|
rs144184387 CA22601482 |
209 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144184387 CA858639 |
209 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs960591661 CA22601476 |
211 | K>N | No |
ClinGen TOPMed |
|
|
rs752031340 CA858637 CA340390030 |
213 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs12021744 CA340390043 |
213 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858638 rs12021744 |
213 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778386427 CA858636 |
214 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572316537 CA340389984 |
217 | S>N | No |
ClinGen Ensembl |
|
|
rs759678146 CA858632 |
218 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139150532 CA858633 |
218 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs78239878 CA22601426 |
220 | M>L | No |
ClinGen Ensembl |
|
|
CA858630 rs766106679 |
220 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA858631 rs766106679 |
220 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA340389911 rs1280382484 |
222 | V>M | No |
ClinGen gnomAD |
|
|
rs925029275 CA22601407 |
224 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1274798585 CA340389886 |
224 | G>S | No |
ClinGen gnomAD |
|
|
CA340389876 rs1288462910 |
225 | I>L | No |
ClinGen gnomAD |
|
|
CA858627 rs771978476 |
226 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448566111 CA340389809 |
227 | F>L | No |
ClinGen gnomAD |
|
|
rs368104706 CA858626 |
227 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148271236 CA858625 |
232 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340389681 rs570741700 |
233 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA858624 rs570741700 |
233 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774216693 CA858608 |
234 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858606 rs367641441 |
235 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858607 rs763535754 |
235 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs202043572 CA858605 COSM212146 |
238 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA858604 COSM2193257 rs769472543 |
238 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769472543 CA340387489 |
238 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22586209 rs1046393434 |
239 | M>I | No |
ClinGen gnomAD |
|
|
rs202142704 CA858603 |
239 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA858602 rs142744203 |
240 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858601 rs142744203 |
240 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340387468 rs1300171218 |
240 | G>S | No |
ClinGen gnomAD |
|
|
CA858600 rs748684307 |
241 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA858598 rs755050608 |
243 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA858599 rs145709346 |
243 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858595 rs756327755 |
244 | A>G | No |
ClinGen ExAC |
|
|
rs749367429 CA858597 |
244 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756327755 CA858596 |
244 | A>V | No |
ClinGen ExAC |
|
|
CA340387375 rs1557667839 |
246 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 246 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340387369 rs1423974520 |
247 | V>I | No |
ClinGen gnomAD |
|
|
CA858590 rs756997661 |
248 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA340387325 rs1572295994 |
249 | F>L | No |
ClinGen Ensembl |
|
|
CA858588 rs764063522 |
252 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775058993 CA858586 |
256 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775058993 CA858587 |
256 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858585 rs764584199 |
257 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759274735 CA858584 |
258 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA340387207 rs1302207279 |
258 | M>T | No |
ClinGen gnomAD |
|
|
CA340387181 rs1221077728 |
260 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA340387170 rs375544818 |
260 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772593496 CA340387168 |
261 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772593496 CA858582 |
261 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376321007 CA858581 |
262 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78891054 CA340387136 |
263 | V>A | No |
ClinGen gnomAD |
|
|
CA22586065 rs78891054 |
263 | V>G | No |
ClinGen gnomAD |
|
|
rs370082225 CA858559 |
266 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745920449 CA858558 |
267 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340386854 rs1440562686 |
268 | F>L | No |
ClinGen gnomAD |
|
|
CA858556 rs771136123 |
270 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA22585187 rs781445076 |
270 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858557 rs781445076 |
270 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340386800 COSM1343443 rs1264265912 |
271 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA340386789 rs1244721661 |
271 | G>V | No |
ClinGen gnomAD |
|
|
CA858554 rs777634599 |
272 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA340386750 rs1362646330 |
274 | F>L | No |
ClinGen gnomAD |
|
|
CA858552 rs752710827 |
275 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs147551241 CA858551 |
277 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs952154029 CA22585140 |
277 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs147551241 CA858550 |
277 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457371623 CA340386678 |
278 | G>D | No |
ClinGen gnomAD |
|
|
CA858549 rs753383597 |
281 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777832897 CA22585119 |
282 | E>Q | No |
ClinGen gnomAD |
|
|
CA858548 rs766203170 |
283 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142088615 CA22585109 |
283 | M>T | No |
ClinGen 1000Genomes |
|
|
CA340386629 rs145587721 |
284 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs993926197 CA22585086 |
284 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA858546 rs139648137 |
285 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA858543 rs763191758 |
286 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764541055 CA858545 |
286 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22585042 rs943179882 |
287 | R>K | No |
ClinGen gnomAD |
|
|
rs146037864 CA22585036 |
287 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA858541 rs770267397 |
288 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199791615 CA858538 |
289 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199791615 CA340386604 |
289 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553133490 CA858539 |
289 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866804916 CA22584990 |
290 | G>D | No |
ClinGen Ensembl |
|
|
CA858537 rs146288994 |
290 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340386596 rs1572294704 |
291 | K>* | No |
ClinGen Ensembl |
|
|
rs1385709900 CA340386556 |
296 | Y>* | No |
ClinGen gnomAD |
|
|
rs1321031823 CA340386559 |
296 | Y>C | No |
ClinGen gnomAD |
|
|
CA858535 rs771942460 |
297 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs756602904 CA858532 |
298 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 298 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476531668 CA340386536 |
300 | V>A | No |
ClinGen gnomAD |
|
|
CA858530 rs143355775 |
300 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1340442710 CA340386533 |
301 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 301 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767050276 CA858527 |
303 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758849847 CA858526 |
304 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs753050285 CA858525 |
306 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA22584892 rs576193959 |
307 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA22584882 CA858522 rs147574179 |
308 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs760046690 CA858521 |
310 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858520 rs777070065 |
311 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs925138271 CA22584844 |
311 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA858519 rs372771886 |
312 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331168833 CA340386464 |
313 | P>R | No |
ClinGen gnomAD |
|
|
CA858518 rs760640685 |
313 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA858517 rs773531746 |
314 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs376317359 CA858516 |
315 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA858515 rs150295283 |
315 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774295259 CA858514 |
316 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA858513 rs749261435 |
317 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749261435 CA858512 |
317 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000930966 CA22584752 |
318 | F>S | No |
ClinGen gnomAD |
|
|
rs780099489 CA858510 |
320 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780958887 CA858507 |
321 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858509 rs755694116 |
321 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA858506 rs756858064 |
322 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1272274570 CA340386412 |
322 | K>R | No |
ClinGen gnomAD |
|
|
CA858505 rs751152583 |
324 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765604498 CA858504 |
325 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755291489 CA858503 |
326 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557666887 CA340386376 |
328 | I>F | No |
ClinGen Ensembl |
|
|
CA858502 COSM1226008 rs142101048 |
329 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766773537 CA858501 |
329 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA858498 rs767569024 |
330 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767569024 CA858499 COSM1667553 |
330 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs375484883 CA858497 |
331 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262788135 CA340386353 |
332 | L>P | No |
ClinGen TOPMed |
|
|
CA22584626 rs768602955 |
333 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858495 rs768602955 |
333 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340386252 rs1157092090 |
337 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1007820719 CA22584597 |
337 | I>V | No |
ClinGen Ensembl |
|
|
rs139408633 CA340386246 |
338 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139408633 CA858494 COSM3977747 |
338 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1413427636 CA340386231 |
338 | A>V | No |
ClinGen gnomAD |
|
|
rs1472064542 CA340386218 |
339 | L>P | No |
ClinGen gnomAD |
|
|
rs371287501 CA22584565 COSM1343440 |
340 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs1188635768 CA340386204 |
340 | A>V | No |
ClinGen gnomAD |
|
|
rs745452179 CA858491 |
341 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340386198 rs745452179 |
341 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780578218 CA858490 |
342 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA22584518 rs952434730 |
343 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340386156 rs952434730 |
343 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1465761540 CA340386128 |
344 | S>T | No |
ClinGen TOPMed |
|
|
CA340385114 rs1244032632 |
346 | A>D | No |
ClinGen gnomAD |
|
|
rs1463656319 CA340385105 |
348 | L>M | No |
ClinGen gnomAD |
|
|
rs746288702 CA858429 |
349 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746288702 CA858428 |
349 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22582405 rs551690347 |
351 | T>S | No |
ClinGen Ensembl |
|
|
rs375077523 CA858427 |
353 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340385074 rs1244609426 |
353 | K>T | No |
ClinGen gnomAD |
|
|
rs1557665718 CA340385045 |
357 | E>D | No |
ClinGen Ensembl |
|
|
CA340385037 rs1247724984 |
358 | N>K | No |
ClinGen gnomAD |
|
|
CA22582376 rs1035745221 |
358 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA22582357 rs761706271 |
361 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22582359 rs375111448 |
361 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA858424 rs778390607 |
361 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748241695 CA858422 |
362 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM910761 rs1557665688 CA340384996 |
362 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs199825480 CA858420 |
363 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199825480 CA22582339 |
363 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779070123 CA858421 |
363 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA858419 rs753947170 COSM910760 |
364 | R>C | Variant assessed as Somatic; 4.692e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs368436714 CA858418 |
364 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750402828 CA858416 |
367 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750402828 CA340384935 |
367 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374730599 CA858415 |
367 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750402828 CA22582302 |
367 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340384909 rs751079708 |
369 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751079708 CA858413 |
369 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265956819 CA340384885 |
371 | P>S | No |
ClinGen gnomAD |
|
|
rs762683335 CA858411 |
372 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237428602 CA340384857 |
373 | G>C | No |
ClinGen TOPMed |
|
|
CA340384854 rs1203424604 |
373 | G>D | No |
ClinGen gnomAD |
|
|
rs1019774407 CA22582243 |
375 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA22582233 rs139677452 |
376 | I>S | No |
ClinGen ESP |
|
|
rs771459040 CA858409 |
378 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA858407 rs768585493 |
380 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs772624859 CA858406 |
381 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA340384748 rs772624859 |
381 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1053364483 CA22582220 |
382 | A>V | No |
ClinGen gnomAD |
|
|
CA340384731 rs1333791458 |
383 | L>V | No |
ClinGen Ensembl |
|
|
CA22582210 rs889969088 |
384 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs555084898 CA858402 |
385 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA858401 rs367561362 |
386 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22582177 rs912313621 |
386 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 388 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755953710 COSM1343438 CA858400 |
389 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA858398 rs373697976 |
393 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858397 rs757227402 |
394 | Q>K | No |
ClinGen ExAC |
|
|
CA858396 rs751397050 |
395 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA858395 rs763684677 |
397 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340384620 rs377738768 |
398 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858392 rs141869947 |
399 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340384614 rs1557665438 |
399 | E>V | No |
ClinGen Ensembl |
|
|
rs773715019 CA858390 |
400 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs772267132 CA858389 |
401 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762403189 CA858388 |
403 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285110335 CA340384585 |
404 | Q>* | No |
ClinGen gnomAD |
|
|
rs774679174 CA858387 |
404 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs768822532 CA858386 |
405 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA340384573 rs1236772012 |
406 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA858385 rs749350231 |
407 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1411900421 CA340384560 |
408 | I>V | No |
ClinGen gnomAD |
|
|
rs1400278602 CA340384553 |
409 | S>C | No |
ClinGen gnomAD |
|
|
CA858343 rs771049177 |
410 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1419646443 CA340384372 |
414 | A>T | No |
ClinGen gnomAD |
|
|
rs772893550 CA858341 |
415 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs370913970 CA858339 |
417 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858337 rs768329543 |
419 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858336 rs748735189 |
420 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1263911084 CA340384334 |
420 | A>S | No |
ClinGen TOPMed |
|
|
CA340384321 rs1308260430 |
422 | I>N | No |
ClinGen gnomAD |
|
|
CA858334 rs779823364 |
424 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1434061330 CA340384309 |
424 | Q>P | No |
ClinGen gnomAD |
|
| rs774525042 | 424 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208931800 CA340384302 |
425 | A>G | No |
ClinGen gnomAD |
|
|
rs767187667 CA858333 |
425 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA858330 rs141913685 |
426 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs778135532 CA858329 |
427 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA858327 rs530578463 |
428 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA858328 rs530578463 |
428 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373326915 CA858326 |
430 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369327397 CA858325 |
432 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557664941 CA340384256 |
433 | V>G | No |
ClinGen Ensembl |
|
|
rs200606407 CA858323 |
433 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572290331 CA340384249 |
435 | T>P | No |
ClinGen Ensembl |
|
|
CA858321 rs145443647 |
437 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858320 rs772032993 |
438 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340384221 rs1557664916 |
440 | P>A | No |
ClinGen Ensembl |
|
|
rs1481112695 CA340384212 |
441 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA858318 rs774489382 |
442 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858317 rs768710932 |
444 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858316 rs749184336 |
446 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1229295545 CA340384133 |
447 | I>V | No |
ClinGen TOPMed |
|
|
rs769301056 CA858314 |
449 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA858312 rs780795904 |
450 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858311 rs758815960 |
452 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA22580173 rs1039737757 |
455 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA858296 rs369738167 |
456 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858295 rs776329055 COSM1343436 |
456 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA858294 rs770570313 |
457 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs138141030 CA858293 |
458 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA858292 rs150116796 |
458 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA858290 rs368128779 |
460 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755327734 CA858291 |
460 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260388294 CA340383810 |
463 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs750528002 CA858287 |
464 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA858285 rs757568398 |
466 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs376425151 CA858283 |
467 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762781310 CA858281 |
468 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 469 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA858279 rs765212164 |
470 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1309521087 CA340383690 |
471 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA340383656 rs1366492043 |
473 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs981949109 CA22580047 |
473 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA22580032 rs1047262780 |
474 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs776127936 CA858277 |
475 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs949172793 CA22580012 |
475 | H>Y | No |
ClinGen Ensembl |
|
|
CA858276 rs770375947 |
476 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746692660 CA858275 |
477 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs146762551 CA858274 |
478 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858272 rs542658976 |
478 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs146762551 COSM910756 CA858273 |
478 | R>W | endometrium Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 481 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148719041 CA858270 |
482 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340383547 rs148719041 |
482 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA858266 rs145514886 |
483 | R>Q | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs781446041 CA858268 |
483 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250316493 CA340383537 |
484 | D>A | No |
ClinGen gnomAD |
|
|
rs756907576 CA858265 |
484 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA340383540 rs1336983852 |
484 | D>N | No |
ClinGen gnomAD |
|
|
CA340383535 rs1250316493 |
484 | D>V | No |
ClinGen gnomAD |
|
|
CA858263 rs556878594 |
485 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA22579926 rs915639787 |
485 | T>I | No |
ClinGen TOPMed |
|
|
rs367785756 CA858262 |
486 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759488744 CA340383517 |
488 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22579905 rs754064713 |
488 | E>A | No |
ClinGen gnomAD |
|
|
rs759488744 CA858259 |
488 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340383174 rs1572288097 |
490 | L>R | No |
ClinGen Ensembl |
|
|
rs986046201 CA22579303 |
491 | L>P | No |
ClinGen Ensembl |
|
|
rs777928881 CA858244 |
492 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs139218904 CA340383122 |
493 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758655733 CA858243 |
493 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340383101 TCGA novel rs1349709541 |
494 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs778796774 CA858241 |
494 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1309634676 CA340383092 |
495 | T>N | No |
ClinGen gnomAD |
|
|
CA858240 rs754734228 |
496 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1392765655 COSM4144081 CA340383072 |
496 | K>R | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA858238 rs766288232 |
499 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858236 rs749954155 |
499 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs866495549 CA22579249 |
502 | E>* | No |
ClinGen Ensembl |
|
|
rs766880610 CA858235 |
502 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316860590 CA340382957 |
503 | I>S | No |
ClinGen gnomAD |
|
|
CA858234 rs761549622 |
503 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858232 rs150697605 |
504 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340382846 rs1160773267 |
509 | N>K | No |
ClinGen gnomAD |
|
|
rs770324409 CA858231 |
510 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759959814 CA858230 |
510 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA340382798 rs1572287949 |
512 | V>G | No |
ClinGen Ensembl |
|
|
rs143026811 CA340382777 |
514 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA340382763 rs1572287915 |
516 | A>D | No |
ClinGen Ensembl |
|
|
CA340382767 rs1238648039 |
516 | A>T | No |
ClinGen gnomAD |
|
|
rs868705614 CA340382759 |
517 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs868705614 CA22579151 |
517 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747412703 CA858227 |
519 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA340382738 rs1218474300 |
519 | S>F | No |
ClinGen gnomAD |
|
|
rs1229045358 CA340382734 |
520 | E>G | No |
ClinGen gnomAD |
|
|
CA858225 rs748439840 |
520 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA858224 rs748439840 |
520 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340382720 rs1572287856 |
522 | T>P | No |
ClinGen Ensembl |
|
|
CA858223 rs779083706 |
524 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA22579113 rs1033575817 |
524 | G>S | No |
ClinGen Ensembl |
|
|
rs1468936150 CA340382694 |
525 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 525 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196076109 CA340382690 |
525 | P>L | No |
ClinGen TOPMed |
|
|
CA858222 rs114522036 |
526 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1572287818 CA340382685 |
526 | T>P | No |
ClinGen Ensembl |
|
|
CA22579092 rs201766945 |
527 | C>* | No |
ClinGen gnomAD |
|
|
CA340382669 rs1162556543 |
528 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1475064266 CA340382638 |
530 | H>Y | No |
ClinGen gnomAD |
|
|
CA858221 rs753625746 |
531 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753625746 CA340382618 |
531 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1195646059 CA340382583 |
532 | P>L | No |
ClinGen gnomAD |
|
|
rs145316839 CA858219 |
533 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA22579059 rs918641624 |
536 | E>Q | No |
ClinGen TOPMed |
|
|
COSM910755 CA340382429 rs1222625240 |
537 | Q>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1288401 CA858218 VAR_052488 |
537 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA858216 rs371217556 |
539 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371217556 CA858217 |
539 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403578544 CA340382258 |
542 | P>S | No |
ClinGen gnomAD |
|
|
rs182918887 CA858211 |
543 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777144509 CA340382231 |
543 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA858213 rs777144509 |
543 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777144509 CA858212 |
543 | A>T | Variant assessed as Somatic; 4.679e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA858210 rs761271719 |
544 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs192590104 CA858208 |
545 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192590104 CA340382184 |
545 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340382155 rs1423647678 |
546 | L>V | No |
ClinGen gnomAD |
|
|
CA858206 rs774621015 |
547 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA858207 rs748161006 |
547 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340382025 rs1572287559 |
550 | T>P | No |
ClinGen Ensembl |
|
|
rs202037434 CA858203 |
552 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340381849 CA340381857 rs1288400 |
554 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22578939 rs17850871 |
555 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17850871 CA858201 |
555 | E>K | Variant assessed as Somatic; 0.000152 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA22578940 rs17850871 |
555 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA858200 rs745860123 |
557 | E>D | No |
ClinGen ExAC |
|
|
CA858199 rs368205330 |
559 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340381706 TCGA novel rs1557663394 |
561 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs1323394808 CA340381689 |
561 | V>W | No |
ClinGen gnomAD |
No associated diseases with O00341
2 regional properties for O00341
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Sodium:dicarboxylate symporter, conserved site | 53 - 67 | IPR018107-1 |
| conserved_site | Sodium:dicarboxylate symporter, conserved site | 371 - 394 | IPR018107-2 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| extracellularly glutamate-gated chloride channel activity | Enables the transmembrane transfer of a chloride ion by a channel that opens when glutamate is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane. |
| glutamate:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glutamate(out) + Na+(out) = glutamate(in) + Na+(in). |
| high-affinity L-glutamate transmembrane transporter activity | Enables the transfer of glutamate from one side of a membrane to the other. In high-affinity transport the transporter is able to bind the solute even if it is only present at very low concentrations. |
| L-glutamate transmembrane transporter activity | Enables the transfer of L-glutamate from one side of a membrane to the other. L-glutamate is the anion of 2-aminopentanedioic acid. |
| neutral amino acid transmembrane transporter activity | Enables the transfer of neutral amino acids from one side of a membrane to the other. Neutral amino acids have side chains with no charge at pH 7.3. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| dicarboxylic acid transport | The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 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. |
| L-glutamate transmembrane transport | The directed movement of L-glutamate across a membrane. |
| neurotransmitter reuptake | The directed movement of neurotransmitter molecules from the extrasynaptic space into the presynaptic cytosol. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neurotransmitter uptake | The directed movement of neurotransmitters into neurons or glial cells. This process leads to inactivation and recycling of neurotransmitters. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVPHAILARG | RDVCRRNGLL | ILSVLSVIVG | CLLGFFLRTR | RLSPQEISYF | QFPGELLMRM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKMMILPLVV | SSLMSGLASL | DAKTSSRLGV | LTVAYYLWTT | FMAVIVGIFM | VSIIHPGSAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QKETTEQSGK | PIMSSADALL | DLIRNMFPAN | LVEATFKQYR | TKTTPVVKSP | KVAPEEAPPR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RILIYGVQEE | NGSHVQNFAL | DLTPPPEVVY | KSEPGTSDGM | NVLGIVFFSA | TMGIMLGRMG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DSGAPLVSFC | QCLNESVMKI | VAVAVWYFPF | GIVFLIAGKI | LEMDDPRAVG | KKLGFYSVTV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VCGLVLHGLF | ILPLLYFFIT | KKNPIVFIRG | ILQALLIALA | TSSSSATLPI | TFKCLLENNH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IDRRIARFVL | PVGATINMDG | TALYEAVAAI | FIAQVNNYEL | DFGQIITISI | TATAASIGAA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GIPQAGLVTM | VIVLTSVGLP | TDDITLIIAV | DWALDRFRTM | INVLGDALAA | GIMAHICRKD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FARDTGTEKL | LPCETKPVSL | QEIVAAQQNG | CVKSVAEASE | LTLGPTCPHH | VPVQVEQDEE |
| 550 | |||||
| LPAASLNHCT | IQISELETNV |