Q96QE2
Gene name |
SLC2A13 |
Protein name |
Proton myo-inositol cotransporter |
Names |
H(+)-myo-inositol cotransporter, Hmit, H(+)-myo-inositol symporter, Solute carrier family 2 member 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114134 |
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 Q96QE2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96QE2-F1 | Predicted | AlphaFoldDB |
479 variants for Q96QE2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA384585705 rs925293886 |
3 | R>C | No |
ClinGen gnomAD |
|
|
rs925293886 CA235902855 |
3 | R>G | No |
ClinGen gnomAD |
|
|
rs1178245523 CA384585702 |
3 | R>L | No |
ClinGen gnomAD |
|
|
CA384585686 rs1471468439 |
6 | S>G | No |
ClinGen gnomAD |
|
|
CA6512941 rs139518863 |
6 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953971363 CA384585655 |
10 | E>A | No |
ClinGen gnomAD |
|
|
rs953971363 CA235902854 |
10 | E>G | No |
ClinGen gnomAD |
|
|
CA384585638 rs1469023595 |
12 | T>M | No |
ClinGen gnomAD |
|
|
CA384585631 rs1275296746 |
14 | R>W | No |
ClinGen gnomAD |
|
|
rs1316443685 CA384585622 |
15 | S>I | No |
ClinGen gnomAD |
|
|
CA384585624 rs1316443685 |
15 | S>N | No |
ClinGen gnomAD |
|
|
CA384585620 rs1285097801 |
15 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748608502 CA6512940 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1300980302 CA384585583 |
21 | G>C | No |
ClinGen gnomAD |
|
|
rs1489096621 CA384585580 |
21 | G>V | No |
ClinGen TOPMed |
|
|
rs1439905334 CA384585577 |
22 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 22 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946250584 CA235902852 |
22 | E>D | No |
ClinGen TOPMed |
|
|
CA384585579 rs1439905334 |
22 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA384585571 rs1371206699 |
23 | R>W | No |
ClinGen gnomAD |
|
|
CA384585567 rs1426219998 |
24 | R>S | No |
ClinGen TOPMed |
|
|
CA384585555 rs1327530841 |
25 | R>S | No |
ClinGen gnomAD |
|
|
rs1451225841 CA384585534 |
28 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA384585533 rs1451225841 |
28 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA235902851 rs913513428 |
29 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA384585521 rs987617264 |
30 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs987617264 CA235902850 |
30 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 31 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384585511 rs1159264644 |
32 | A>P | No |
ClinGen gnomAD |
|
|
rs1402944975 CA384585507 |
32 | A>V | No |
ClinGen gnomAD |
|
|
CA235902849 rs955082550 |
36 | A>P | No |
ClinGen TOPMed |
|
|
CA235902848 rs868609933 |
37 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 38 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288505227 CA384585451 |
41 | L>F | No |
ClinGen TOPMed |
|
|
CA235902844 rs1015393959 |
42 | L>M | No |
ClinGen Ensembl |
|
|
rs1454996917 CA384585427 |
45 | A>D | No |
ClinGen gnomAD |
|
|
rs921694865 CA235902841 |
47 | S>L | No |
ClinGen TOPMed |
|
|
CA384585406 rs1186876997 |
48 | S>I | No |
ClinGen gnomAD |
|
|
CA384585403 rs1592087932 |
49 | T>P | No |
ClinGen Ensembl |
|
|
rs557242708 CA235902839 |
50 | S>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs557242708 CA235902840 |
50 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA384585373 rs1218122301 |
53 | S>I | No |
ClinGen gnomAD |
|
|
CA384585366 rs865827185 |
54 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA235902837 rs865827185 |
54 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6512938 rs768073140 |
56 | A>S | No |
ClinGen ExAC |
|
|
rs538841712 CA6512937 |
56 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6512936 rs779892258 |
58 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305413174 CA384585339 |
59 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA235902836 rs745713466 |
60 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755803525 CA6512935 |
60 | G>S | No |
ClinGen ExAC |
|
|
CA6512934 rs745713466 |
60 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001866247 CA384585332 |
61 | V>D | No |
ClinGen TOPMed |
|
|
rs1001866247 CA235902835 |
61 | V>G | No |
ClinGen TOPMed |
|
|
CA384585335 rs1480651884 |
61 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1480651884 CA384585334 |
61 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6512932 CA6512931 rs757006339 |
62 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757006339 CA384585330 |
62 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1242223779 CA384585326 |
63 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA384585288 rs1158042385 |
68 | A>V | No |
ClinGen TOPMed |
|
|
CA384585287 rs1361117253 |
69 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA235902832 rs950619369 |
70 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs764057239 CA6512929 |
71 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6512928 rs755056712 |
72 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868571276 CA235902831 |
72 | F>L | No |
ClinGen Ensembl |
|
|
CA384585243 rs760884647 CA384585242 |
75 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1255274042 CA384585239 |
76 | E>* | No |
ClinGen gnomAD |
|
|
rs1046622440 CA235902830 |
76 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA384585240 rs1255274042 |
76 | E>K | No |
ClinGen gnomAD |
|
|
CA384585233 rs1305254946 |
77 | T>A | No |
ClinGen TOPMed |
|
|
rs773356809 CA384585230 |
77 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773356809 CA6512924 |
77 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA384585229 rs1282188585 |
78 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA384585224 rs1565629951 |
78 | P>L | No |
ClinGen Ensembl |
|
|
CA384585227 rs1282188585 |
78 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6512923 rs767788035 |
79 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384585192 rs1311799910 |
83 | V>A | No |
ClinGen gnomAD |
|
|
rs1352985142 CA384585195 |
83 | V>L | No |
ClinGen gnomAD |
|
|
CA384585188 rs1377869585 |
84 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384585183 rs1461811194 |
85 | A>T | No |
ClinGen gnomAD |
|
|
CA6512919 rs775125127 |
86 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384585178 rs775125127 |
86 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512918 rs775125127 |
86 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474374571 CA384585174 |
87 | F>I | No |
ClinGen gnomAD |
|
|
rs780836152 CA6512915 |
91 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1480203926 CA384585139 |
92 | G>D | No |
ClinGen gnomAD |
|
|
CA384585144 rs1193807948 |
92 | G>S | No |
ClinGen gnomAD |
|
|
rs758321917 CA6512911 |
97 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512908 rs756131221 |
99 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384585093 rs756131221 |
99 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6512906 rs767738927 |
100 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751930298 CA6512904 |
101 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384585032 rs1370076979 |
110 | K>Q | No |
ClinGen gnomAD |
|
|
rs776070011 CA6512901 |
110 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776070011 CA384585028 |
110 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235902825 rs866386599 |
111 | R>L | No |
ClinGen Ensembl |
|
|
CA6512900 rs377169528 |
111 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6512899 rs759063094 |
112 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776190692 CA6512898 |
113 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384585005 rs1272167368 |
114 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384585007 rs1272167368 |
114 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA384585004 rs1438779946 |
114 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384584989 rs1258481734 |
117 | A>T | No |
ClinGen gnomAD |
|
|
rs1309514458 CA384584972 |
119 | W>C | No |
ClinGen gnomAD |
|
|
CA384584965 rs1195981382 |
120 | Q>R | No |
ClinGen TOPMed |
|
|
CA384584951 rs1370460022 |
122 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748092714 CA6512893 |
124 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778773485 CA6512892 |
126 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778773485 CA384584932 |
126 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384584921 rs1158126836 |
127 | T>K | No |
ClinGen gnomAD |
|
|
CA384584922 rs1158126836 |
127 | T>R | No |
ClinGen gnomAD |
|
|
rs756217326 CA6512891 |
128 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160176897 CA384584903 |
130 | A>V | No |
ClinGen gnomAD |
|
|
CA384584900 rs1354471292 |
131 | A>S | No |
ClinGen TOPMed |
|
|
CA235902823 rs921216683 |
132 | A>T | No |
ClinGen TOPMed |
|
|
CA384584882 rs1419580750 |
134 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA235902820 rs908990457 |
137 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs976674575 CA235902818 |
139 | G>S | No |
ClinGen Ensembl |
|
|
rs983076323 CA235902816 |
140 | A>T | No |
ClinGen TOPMed |
|
|
CA384584847 rs1484840929 |
140 | A>V | No |
ClinGen TOPMed |
|
|
CA6512887 rs751933707 |
142 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235902815 rs1024606509 |
144 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs369644372 CA6512885 |
149 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369644372 CA6512884 |
149 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 150 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382862530 CA384584789 |
150 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384584790 rs1382862530 |
150 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1434229239 CA384584782 |
151 | I>N | No |
ClinGen TOPMed |
|
|
CA384584784 rs1592087441 |
151 | I>V | No |
ClinGen Ensembl |
|
|
CA384584776 rs1300000370 |
152 | L>F | No |
ClinGen gnomAD |
|
|
rs1394232883 CA384584751 |
156 | A>S | No |
ClinGen gnomAD |
|
|
CA384584748 rs1374014927 |
156 | A>V | No |
ClinGen TOPMed |
|
|
rs1432555306 CA384584728 |
159 | T>I | No |
ClinGen TOPMed |
|
|
rs186341127 CA384584724 |
160 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776195804 CA6512881 |
160 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186341127 CA6512880 |
160 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1447106142 CA384584713 |
162 | S>C | No |
ClinGen gnomAD |
|
|
CA6512879 rs760382450 |
163 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001866833 CA235902814 |
163 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771878289 CA6512877 |
166 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6512876 rs747898136 |
167 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512875 rs774312850 |
167 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384584685 rs1328246783 |
168 | A>S | No |
ClinGen gnomAD |
|
|
CA384584675 rs1291572310 |
169 | N>K | No |
ClinGen gnomAD |
|
|
rs745992233 CA6512873 |
170 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6512872 rs781326099 |
171 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1415981200 CA384584647 |
173 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs757215749 CA6512871 |
173 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6512870 rs747266896 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA235902812 rs12815421 |
177 | G>A | No |
ClinGen Ensembl |
|
|
rs1300756708 CA384584622 |
178 | R>H | No |
ClinGen gnomAD |
|
|
rs758861667 CA6512868 |
179 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1592087314 CA384584610 |
180 | V>G | No |
ClinGen Ensembl |
|
|
rs1212628483 CA384584615 |
180 | V>I | No |
ClinGen gnomAD |
|
|
CA384584551 rs1456454266 |
187 | I>T | No |
ClinGen TOPMed |
|
|
rs1269189401 CA384584554 |
187 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1278668094 CA384584535 |
190 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384584495 rs758683743 |
196 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512850 rs758683743 |
196 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512849 rs748594494 |
197 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755242782 CA6512847 |
198 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs754392923 CA6512846 |
199 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766757270 CA6512845 |
203 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17458163 CA235896431 |
206 | G>A | No |
ClinGen Ensembl |
|
|
rs1441961214 CA384584427 |
207 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs143000031 CA6512844 |
207 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 208 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA235896430 rs539503212 |
212 | N>K | No |
ClinGen 1000Genomes |
|
|
rs201782676 CA6512841 |
213 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201782676 CA6512840 |
213 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384584372 rs1248521956 |
216 | I>V | No |
ClinGen gnomAD |
|
|
rs200122745 CA6512839 |
221 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336083100 CA384584336 |
221 | F>Y | No |
ClinGen TOPMed |
|
|
CA6512838 rs762604080 |
223 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1481690292 CA384584315 |
224 | S>N | No |
ClinGen TOPMed |
|
|
CA6512836 rs769583915 |
225 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA235896429 rs976591878 |
229 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6512835 rs200579771 |
229 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA235896428 rs965174191 |
231 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6512833 rs368001135 |
232 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368001135 CA6512834 |
232 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112103961 CA384584259 |
233 | L>H | No |
ClinGen gnomAD |
|
|
rs112103961 CA235896427 |
233 | L>P | No |
ClinGen gnomAD |
|
|
CA384584243 rs1207255736 |
235 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs779230404 CA6512831 |
236 | D>G | No |
ClinGen ExAC |
|
|
rs1393641321 CA384584234 |
237 | G>R | No |
ClinGen gnomAD |
|
|
rs1034404828 CA235896425 |
238 | W>* | No |
ClinGen Ensembl |
|
|
rs1348065385 CA384584222 |
238 | W>C | No |
ClinGen TOPMed |
|
|
rs1164071058 CA384584226 |
238 | W>R | No |
ClinGen TOPMed |
|
|
CA6512810 rs780277498 |
239 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs781626838 CA6512807 |
241 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770129674 CA384584188 |
241 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746386047 CA6512808 |
241 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512809 rs770129674 |
241 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483434126 CA384584160 |
245 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384584147 rs1257568175 |
247 | V>A | No |
ClinGen gnomAD |
|
|
rs756788970 CA6512806 |
248 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200980396 CA6512804 |
249 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77384712 CA235894464 |
250 | V>G | No |
ClinGen Ensembl |
|
|
rs757985790 CA384584130 |
251 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384584125 rs544578794 |
251 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6512803 rs757985790 |
251 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384584104 rs1397155244 |
254 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200453579 CA235894463 |
255 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 255 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759358485 CA235894462 |
259 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384584045 rs1565596310 |
263 | P>A | No |
ClinGen Ensembl |
|
|
CA235894461 rs954622172 |
264 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA384584035 rs1461609766 |
265 | W>R | No |
ClinGen gnomAD |
|
|
rs28370680 CA6512799 |
267 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1172888730 CA384584010 |
268 | Q>R | No |
ClinGen gnomAD |
|
|
rs766389341 CA6512798 |
270 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1417291751 CA384583986 |
271 | Q>H | No |
ClinGen gnomAD |
|
|
rs774283512 CA6512796 |
273 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1424345508 CA384583968 |
274 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 275 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763089455 CA6512794 |
276 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6512793 rs775723584 |
276 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1159238512 CA384583916 |
282 | M>T | No |
ClinGen TOPMed |
|
|
rs1238459718 CA384583910 |
283 | R>G | No |
ClinGen gnomAD |
|
|
CA6512791 rs140268463 |
283 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6512792 rs140268463 |
283 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384583903 rs1447901815 |
284 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384583906 rs1555154443 |
284 | G>S | No |
ClinGen Ensembl |
|
|
CA6512790 rs143860004 |
285 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771403900 CA6512789 |
286 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA6512788 rs746576353 |
286 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA384583882 rs1324032291 |
287 | T>N | No |
ClinGen gnomAD |
|
|
rs777156287 CA6512787 |
288 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1450097067 CA384583869 |
289 | D>E | No |
ClinGen TOPMed |
|
|
CA384583840 rs1202382989 |
293 | D>G | No |
ClinGen gnomAD |
|
|
CA6512786 rs757869795 |
297 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747782215 CA6512785 |
298 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA235894459 rs375574046 |
299 | I>T | No |
ClinGen Ensembl |
|
|
CA6512784 rs778592175 |
299 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754861906 CA6512783 |
305 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA235894457 rs994268394 |
306 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753664588 CA6512782 |
306 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753664588 CA235894458 |
306 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235894456 rs1006092441 |
307 | G>A | No |
ClinGen Ensembl |
|
|
CA384583738 rs1006092441 |
307 | G>V | No |
ClinGen Ensembl |
|
|
CA6512781 rs149887227 |
308 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1592312610 CA384583714 |
309 | A>G | No |
ClinGen Ensembl |
|
|
rs779998613 CA6512755 |
310 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259089546 CA384583704 |
311 | P>H | No |
ClinGen gnomAD |
|
|
CA6512754 rs200179863 |
313 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1302351167 CA384583668 |
316 | M>I | No |
ClinGen TOPMed |
|
|
CA235886221 rs919547321 |
318 | S>N | No |
ClinGen gnomAD |
|
|
CA6512752 rs767448479 |
320 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA384583643 rs1235738516 |
320 | P>T | No |
ClinGen gnomAD |
|
|
CA235886220 rs758444290 |
321 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758444290 CA6512751 |
321 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378267915 CA384583638 |
321 | P>S | No |
ClinGen TOPMed |
|
|
CA384583635 rs1361160986 |
322 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201171876 CA6512748 |
323 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6512745 rs531725171 COSM1226233 |
323 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs531725171 CA6512746 |
323 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6512747 rs531725171 |
323 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139087177 CA6512744 |
324 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6512742 rs761288225 |
326 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6512740 rs768216813 |
327 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs748960640 CA6512739 |
328 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235886218 rs201276691 |
330 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 331 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543033286 CA6512738 |
331 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1458304953 CA384583576 |
333 | Q>* | No |
ClinGen Ensembl |
|
|
rs745643692 CA6512737 CA6512736 |
334 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1188782251 CA384583569 |
334 | M>V | No |
ClinGen TOPMed |
|
|
CA384583557 rs1279810761 |
335 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6512734 rs749311925 |
338 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512732 rs376729372 |
344 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436116868 CA384583389 |
345 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384583491 rs1341025595 |
345 | M>K | No |
ClinGen gnomAD |
|
|
COSM1606049 CA384583352 rs1592227010 |
351 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 353 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230669953 CA384583334 |
353 | Q>H | No |
ClinGen TOPMed |
|
|
rs1251216065 CA384583326 |
354 | M>I | No |
ClinGen gnomAD |
|
|
CA384583328 rs1459266193 |
354 | M>T | No |
ClinGen gnomAD |
|
|
rs1276735694 CA384583293 |
359 | D>V | No |
ClinGen TOPMed |
|
|
CA6512704 rs767939533 |
359 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs752141529 CA6512702 |
361 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs764665031 CA6512701 |
363 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA384583268 rs1555248252 |
363 | A>S | No |
ClinGen Ensembl |
|
|
rs775123183 CA6512699 |
364 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512700 rs775123183 |
364 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764861666 CA6512698 |
365 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs759229809 CA6512697 |
367 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA384583242 rs1249364212 |
368 | S>P | No |
ClinGen TOPMed |
|
|
CA6512695 rs770794073 |
369 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384583204 rs1326060890 |
374 | N>D | No |
ClinGen gnomAD |
|
|
CA6512692 rs531234541 |
377 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA235877442 rs889510880 |
378 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780188266 CA6512690 |
379 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6512691 rs780188266 |
379 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs146020551 CA6512688 |
380 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA235877441 rs867518967 |
381 | G>E | No |
ClinGen Ensembl |
|
|
CA6512687 rs781230531 |
382 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757735855 CA6512686 |
385 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6512685 rs751949518 |
388 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA384583112 rs751949518 |
388 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA384583111 rs751949518 |
388 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs370937258 CA6512683 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6512682 rs753076022 |
390 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384583062 rs1592226847 |
396 | G>D | No |
ClinGen Ensembl |
|
|
rs1355375147 CA384583056 |
397 | S>N | No |
ClinGen gnomAD |
|
|
rs764815128 CA6512681 |
399 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216313817 CA384583020 |
401 | T>S | No |
ClinGen gnomAD |
|
|
CA6512659 COSM1288000 rs200140895 |
402 | T>A | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6512658 rs138153837 |
402 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6512656 rs372764299 |
403 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1168594723 CA384582999 |
405 | L>F | No |
ClinGen gnomAD |
|
|
CA384582994 rs1430627052 |
406 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490264846 CA384582929 |
416 | A>T | No |
ClinGen gnomAD |
|
|
rs1235434094 CA384582926 |
416 | A>V | No |
ClinGen TOPMed |
|
|
rs1302983116 CA384582924 |
417 | Q>E | No |
ClinGen TOPMed |
|
|
rs761553310 CA6512653 |
417 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs774384915 CA6512652 |
419 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1253733676 CA384582908 |
419 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6512650 rs369402250 |
420 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6512649 rs776565219 |
421 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512648 rs200242923 |
421 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384582902 rs776565219 |
421 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512646 rs778090097 |
422 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384582882 rs1320513149 |
424 | F>S | No |
ClinGen gnomAD |
|
|
rs779536465 CA6512643 |
427 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6512644 rs748442743 |
427 | I>T | No |
ClinGen ExAC |
|
|
CA384582849 rs1246071745 |
429 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 429 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754304967 CA6512641 |
431 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA384582827 rs1329513929 |
433 | N>H | No |
ClinGen gnomAD |
|
|
rs767124315 CA6512637 |
433 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6512639 rs563739300 |
433 | N>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA235876730 rs200572737 |
434 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6512636 rs200572737 |
434 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463455434 CA384582814 |
435 | T>I | No |
ClinGen gnomAD |
|
|
CA6512635 rs201928125 |
435 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA235876729 rs759666478 |
437 | T>A | No |
ClinGen Ensembl |
|
|
rs1021602593 CA235873129 |
443 | N>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 445 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384582724 rs763806571 |
446 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763806571 CA6512614 |
446 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384582710 rs1266079792 |
448 | D>N | No |
ClinGen gnomAD |
|
|
rs1345433900 CA384582689 |
450 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 451 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210895129 CA384582687 |
451 | C>R | No |
ClinGen gnomAD |
|
|
rs758160019 CA6512613 |
452 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 452 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 453 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA235873128 rs1010246332 |
458 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 460 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA235873127 rs891837078 |
461 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384582605 rs1354650262 |
462 | V>A | No |
ClinGen gnomAD |
|
|
CA384582586 rs1288382154 |
465 | S>P | No |
ClinGen gnomAD |
|
|
rs1466223379 CA384582567 |
468 | V>I | No |
ClinGen TOPMed |
|
|
rs1410788809 CA384582551 |
470 | V>A | No |
ClinGen gnomAD |
|
|
CA384582546 rs1330539207 |
471 | N>S | No |
ClinGen gnomAD |
|
|
CA384582537 rs1302078070 |
472 | K>R | No |
ClinGen gnomAD |
|
|
rs1248739344 CA384582520 |
475 | T>A | No |
ClinGen TOPMed |
|
|
rs752709836 CA6512612 |
475 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384582518 rs752709836 |
475 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191300415 CA384582505 |
477 | E>G | No |
ClinGen TOPMed |
|
|
CA6512611 rs765247341 |
477 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6512610 rs760898122 |
478 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296094273 CA384582501 |
478 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384582486 rs1360963734 |
480 | W>S | No |
ClinGen gnomAD |
|
|
CA384398080 rs1374272284 |
485 | N>D | No |
ClinGen gnomAD |
|
|
rs778864757 CA6512573 |
485 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384397980 rs1322090604 |
493 | D>G | No |
ClinGen gnomAD |
|
|
CA384397969 rs1405303810 |
494 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753861463 CA6512571 |
497 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384397920 rs1438045829 |
498 | Y>* | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384397927 rs780013367 |
498 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512570 rs780013367 |
498 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547975454 CA6512569 |
499 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384397868 rs1179297513 |
503 | T>A | No |
ClinGen gnomAD |
|
|
rs764286083 CA6512567 |
506 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6512565 rs763162394 |
508 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1163298497 CA384397799 |
509 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 509 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384397769 rs1224508852 |
513 | L>V | No |
ClinGen gnomAD |
|
|
rs1224016985 CA384397737 |
516 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384397723 rs777043798 |
517 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777043798 CA6512561 |
517 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1272575753 CA384397714 |
518 | V>F | No |
ClinGen gnomAD |
|
|
rs1346754458 CA384397697 |
519 | F>L | No |
ClinGen gnomAD |
|
|
rs529533390 CA6512560 |
519 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 521 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 522 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476802109 CA384397617 |
524 | M>V | No |
ClinGen gnomAD |
|
|
rs767171759 CA6512539 |
526 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773543569 CA6512540 |
526 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1407762648 CA384397573 |
527 | M>V | No |
ClinGen TOPMed |
|
|
rs1235418681 CA384397494 |
530 | T>I | No |
ClinGen gnomAD |
|
|
rs1406388193 COSM1361362 CA384397401 |
535 | I>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA384397396 rs1468912300 |
536 | Y>H | No |
ClinGen TOPMed |
|
|
CA6512537 rs774198949 |
540 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 541 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749102054 CA6512535 |
546 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs768413141 CA6512536 |
546 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768413141 CA235330388 COSM1586442 |
546 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775357605 CA6512534 |
547 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6512533 rs150220364 |
549 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745835876 CA6512532 |
551 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781067627 CA6512531 |
556 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384397051 rs1212910675 |
556 | N>S | No |
ClinGen TOPMed |
|
|
rs1264535479 CA384397032 |
557 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758512663 CA6512530 |
557 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6512528 rs779162216 |
561 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA235330341 rs1034683373 |
565 | H>Y | No |
ClinGen TOPMed |
|
|
CA6512527 rs755199353 |
566 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384396839 rs1430040053 |
569 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs371762067 CA6512526 |
569 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384396819 rs1411382490 |
570 | L>R | No |
ClinGen gnomAD |
|
|
rs1196264147 CA384396764 |
574 | G>R | No |
ClinGen gnomAD |
|
|
CA384396525 rs1223748018 |
575 | A>S | No |
ClinGen gnomAD |
|
|
CA384396529 rs1223748018 |
575 | A>T | No |
ClinGen gnomAD |
|
|
CA384396504 rs1566754673 |
577 | F>L | No |
ClinGen Ensembl |
|
|
rs752051614 CA6512498 |
579 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1336363390 CA384396460 |
580 | A>T | No |
ClinGen gnomAD |
|
|
rs147724845 CA6512496 |
580 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780379358 CA235326932 |
583 | A>V | No |
ClinGen Ensembl |
|
|
rs764773939 CA6512494 |
584 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384396412 rs764773939 |
584 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374629377 CA235326923 |
585 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA384396399 rs776403918 |
585 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512492 rs776403918 |
585 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370246586 CA6512491 |
587 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1363873796 CA384396362 |
589 | F>V | No |
ClinGen gnomAD |
|
|
rs1160729195 CA384396344 |
590 | I>F | No |
ClinGen gnomAD |
|
|
rs768822331 CA6512488 |
592 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA384396311 rs768822331 |
592 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1592109133 CA384396295 |
593 | C>W | No |
ClinGen Ensembl |
|
|
rs1490928943 CA384396277 |
595 | P>S | No |
ClinGen gnomAD |
|
|
rs749309444 CA6512487 |
597 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512486 rs780384655 |
598 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6512485 CA384396222 rs769905519 |
601 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311710474 CA384396170 |
605 | I>M | No |
ClinGen gnomAD |
|
|
CA384396175 rs781699032 |
605 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 605 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6512483 rs781699032 |
605 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746018116 CA6512484 |
605 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA235326866 rs757643708 |
606 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224066940 CA384396148 |
607 | S>P | No |
ClinGen gnomAD |
|
|
CA384396133 rs1347091067 |
608 | L>V | No |
ClinGen gnomAD |
|
|
rs1296189056 CA384396095 |
610 | D>E | No |
ClinGen gnomAD |
|
|
CA384396073 rs1307711676 |
612 | R>G | No |
ClinGen gnomAD |
|
|
rs757975939 CA6512479 |
616 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs778111311 CA6512480 |
616 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6512478 rs752133778 |
617 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA384395997 rs1592109058 |
618 | T>A | No |
ClinGen Ensembl |
|
|
rs765005909 CA384395976 |
620 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6512477 rs765005909 |
620 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6512476 rs759202222 |
620 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA384394984 rs1381229115 |
627 | I>S | No |
ClinGen gnomAD |
|
|
CA384394910 rs1447767965 |
629 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA384394878 rs1198972183 |
631 | R>Q | No |
ClinGen gnomAD |
|
|
rs141841078 CA384394882 COSM1586443 |
631 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1263841013 CA384394810 |
635 | S>N | No |
ClinGen gnomAD |
|
|
CA6512471 rs773186486 |
636 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs771895007 CA6512470 |
637 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs763161899 CA384394768 |
638 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6512469 rs763161899 |
638 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235326791 rs918941302 |
642 | N>D | No |
ClinGen Ensembl |
|
|
CA384394699 rs1566754116 |
642 | N>S | No |
ClinGen Ensembl |
|
|
rs1407291378 CA384394665 |
644 | A>S | No |
ClinGen TOPMed |
|
|
rs1407291378 CA384394669 |
644 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA384394657 rs1393941441 |
644 | A>V | No |
ClinGen gnomAD |
|
|
rs1404633362 CA384394652 |
645 | S>P | No |
ClinGen gnomAD |
|
|
rs769851596 CA6512467 |
648 | E>G | No |
ClinGen ExAC |
No associated diseases with Q96QE2
3 regional properties for Q96QE2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Sugar transporter, conserved site | 180 - 205 | IPR005829-1 |
| conserved_site | Sugar transporter, conserved site | 381 - 397 | IPR005829-2 |
| domain | Major facilitator superfamily domain | 84 - 598 | IPR020846 |
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| astrocyte end-foot | Terminal process of astrocyte abutting non-neuronal surfaces in the brain. |
| cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
| cell periphery | The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| organelle membrane | A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| myo-inositol transmembrane transporter activity | Enables the transfer of myo-inositol from one side of a membrane to the other. Myo-inositol is 1,2,3,4,5/4,6-cyclohexanehexol, a growth factor for animals and microorganisms. |
| myo-inositol:proton symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: myo-inositol(out) + H+(out) = myo-inositol(in) + H+(in). |
| protease binding | Binding to a protease or a peptidase. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| myo-inositol transport | The directed movement of myo-inositol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Myo-inositol is 1,2,3,4,5/4,6-cyclohexanehexol, a growth factor for animals and microorganisms. |
| positive regulation of amyloid-beta formation | Any process that activates or increases the frequency, rate or extent of amyloid-beta formation. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P30605 | ITR1 | Myo-inositol transporter 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P30606 | ITR2 | Myo-inositol transporter 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P58354 | SLC2A8 | Solute carrier family 2, facilitated glucose transporter member 8 | Bos taurus (Bovine) | PR |
| Q9JIF3 | Slc2a8 | Solute carrier family 2, facilitated glucose transporter member 8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRKASENVE | YTLRSLSSLM | GERRRKQPEP | DAASAAGECS | LLAAAESSTS | LQSAGAGGGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGDLERAARR | QFQQDETPAF | VYVVAVFSAL | GGFLFGYDTG | VVSGAMLLLK | RQLSLDALWQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELLVSSTVGA | AAVSALAGGA | LNGVFGRRAA | ILLASALFTA | GSAVLAAANN | KETLLAGRLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VGLGIGIASM | TVPVYIAEVS | PPNLRGRLVT | INTLFITGGQ | FFASVVDGAF | SYLQKDGWRY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MLGLAAVPAV | IQFFGFLFLP | ESPRWLIQKG | QTQKARRILS | QMRGNQTIDE | EYDSIKNNIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EEEKEVGSAG | PVICRMLSYP | PTRRALIVGC | GLQMFQQLSG | INTIMYYSAT | ILQMSGVEDD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RLAIWLASVT | AFTNFIFTLV | GVWLVEKVGR | RKLTFGSLAG | TTVALIILAL | GFVLSAQVSP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RITFKPIAPS | GQNATCTRYS | YCNECMLDPD | CGFCYKMNKS | TVIDSSCVPV | NKASTNEAAW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GRCENETKFK | TEDIFWAYNF | CPTPYSWTAL | LGLILYLVFF | APGMGPMPWT | VNSEIYPLWA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RSTGNACSSG | INWIFNVLVS | LTFLHTAEYL | TYYGAFFLYA | GFAAVGLLFI | YGCLPETKGK |
| 610 | 620 | 630 | 640 | ||
| KLEEIESLFD | NRLCTCGTSD | SDEGRYIEYI | RVKGSNYHLS | DNDASDVE |