Q9UHI7
PR
Gene name |
SLC23A1 |
Protein name |
Solute carrier family 23 member 1 |
Names |
Na(+)/L-ascorbic acid transporter 1, Sodium-dependent vitamin C transporter 1, hSVCT1, Yolk sac permease-like molecule 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9963 |
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 Q9UHI7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UHI7-F1 | Predicted | AlphaFoldDB |
455 variants for Q9UHI7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3434332 rs531426522 |
3 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361145617 rs1472621827 |
7 | L>F | No |
ClinGen gnomAD |
|
|
rs756252283 CA3434331 |
7 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000925855 rs138079930 CA3434330 |
8 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361145553 rs370823646 |
10 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3434328 rs759491076 |
10 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370823646 CA3434329 |
10 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376403265 CA3434326 |
12 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361145511 rs1306386255 |
12 | Q>R | No |
ClinGen TOPMed |
|
|
CA361145317 rs200503816 |
13 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3434279 rs768110409 |
13 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200503816 CA3434280 |
13 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367973515 CA3434278 |
14 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487129344 CA361145260 |
17 | R>S | No |
ClinGen gnomAD |
|
|
rs1048854593 CA128245267 |
18 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361145258 rs1285751811 |
18 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3434276 rs771269619 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3434274 rs182436678 |
20 | S>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs1421910795 CA361145245 |
20 | S>P | No |
ClinGen TOPMed |
|
|
CA361145240 rs1368367864 |
21 | T>A | No |
ClinGen gnomAD |
|
|
CA361145234 rs1161241555 |
22 | P>A | No |
ClinGen TOPMed |
|
|
rs199767403 CA3434271 |
22 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1454125085 CA361145221 |
24 | P>L | No |
ClinGen gnomAD |
|
|
CA3434269 rs751509357 |
24 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930456198 CA128245226 |
25 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3434268 rs780034055 |
27 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs566878712 CA128245206 |
29 | F>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1432575296 CA361145181 |
30 | D>E | No |
ClinGen gnomAD |
|
|
CA3434267 rs758202251 |
31 | M>T | No |
ClinGen ExAC gnomAD |
|
| rs765797895 | 32 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750242763 CA361145158 |
33 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3434264 rs764960834 |
34 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187426180 CA361145153 |
34 | K>R | No |
ClinGen gnomAD |
|
|
CA361145144 rs1487065223 |
35 | I>S | No |
ClinGen gnomAD |
|
|
CA361145148 rs1237223277 |
35 | I>V | No |
ClinGen TOPMed |
|
|
rs753453829 COSM1567495 CA3434262 |
36 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1216890817 CA361145126 |
38 | V>G | No |
ClinGen gnomAD |
|
|
rs114335293 CA3434260 |
38 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114335293 CA3434259 |
38 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775943511 CA128245156 |
40 | P>L | No |
ClinGen gnomAD |
|
|
CA3434258 rs771483020 |
42 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3434257 rs371861360 |
43 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382528288 CA361145095 |
43 | L>V | No |
ClinGen gnomAD |
|
|
rs1300909608 CA361145090 |
44 | C>G | No |
ClinGen gnomAD |
|
|
rs1465483301 CA361145083 |
45 | I>V | No |
ClinGen gnomAD |
|
|
CA361145076 rs1236342206 |
46 | L>V | No |
ClinGen TOPMed |
|
|
rs773743478 CA3434256 |
49 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463631693 CA361145050 |
50 | Q>R | No |
ClinGen gnomAD |
|
|
rs1581380662 CA361144550 |
52 | Y>S | No |
ClinGen Ensembl |
|
|
rs747146966 CA3434234 |
54 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361144506 rs566623911 |
55 | C>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA361144517 rs1369427819 |
55 | C>S | No |
ClinGen Ensembl |
|
|
CA361144493 rs1258292787 |
56 | F>C | No |
ClinGen TOPMed |
|
|
CA3434233 rs372917905 |
56 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361144466 rs1157304716 |
58 | G>D | No |
ClinGen gnomAD |
|
|
rs896602596 CA128244806 |
58 | G>S | No |
ClinGen Ensembl |
|
|
rs772011654 CA361144451 |
59 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772011654 CA3434232 |
59 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3434230 rs778820354 |
61 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs371042206 CA3434229 |
61 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1061527 CA128244755 rs1050767461 |
62 | V>M | Variant assessed as Somatic; 4.923e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA128244744 rs1048319625 |
63 | P>L | No |
ClinGen Ensembl |
|
|
rs887752394 CA128244748 |
63 | P>S | No |
ClinGen Ensembl |
|
|
CA3434226 rs755822670 |
67 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA361144371 rs755822670 |
67 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1226074 rs1240505131 CA361144362 |
67 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA361144345 rs1328825354 |
69 | A>S | No |
ClinGen gnomAD |
|
|
CA361144343 rs1328825354 |
69 | A>T | No |
ClinGen gnomAD |
|
|
CA3434225 rs369192547 |
69 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361144323 rs1347074018 |
71 | C>Y | No |
ClinGen gnomAD |
|
|
rs1296677957 CA361144310 |
72 | V>L | No |
ClinGen gnomAD |
|
|
CA3434223 rs569370877 |
74 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3434220 COSM735493 rs762351719 |
75 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM448673 CA3434221 rs376047353 |
75 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA3434219 rs777154762 |
77 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs760995469 CA3434217 |
78 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775550290 CA3434216 |
84 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361144134 rs1206791272 |
85 | T>I | No |
ClinGen gnomAD |
|
|
CA361144130 rs1206791272 |
85 | T>N | No |
ClinGen gnomAD |
|
|
CA361144122 rs1447440205 |
86 | I>V | No |
ClinGen TOPMed |
|
|
rs200631596 CA3434215 |
88 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361144074 rs1037309804 |
88 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA128244675 rs1037309804 |
88 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759619483 CA361144051 |
89 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3434213 COSM1433467 rs774361660 |
90 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1394786392 CA361144026 |
91 | G>D | No |
ClinGen gnomAD |
|
|
rs770880938 CA3434212 |
91 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200003975 CA361143998 |
93 | T>N | No |
ClinGen TOPMed |
|
|
CA128244664 rs943844590 |
94 | T>N | No |
ClinGen Ensembl |
|
|
CA361143976 rs1315505112 |
95 | L>F | No |
ClinGen gnomAD |
|
|
rs1177159831 CA361143973 |
95 | L>H | No |
ClinGen gnomAD |
|
|
CA361143948 rs1471014832 |
97 | Q>* | No |
ClinGen gnomAD |
|
|
rs777663460 CA3434210 |
100 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3434209 rs769454898 |
102 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1195139832 CA361143855 |
103 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361143858 rs1199854761 |
103 | R>W | No |
ClinGen TOPMed |
|
|
rs1185852140 CA361143590 |
105 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384416618 CA361143482 |
111 | A>D | No |
ClinGen TOPMed |
|
|
CA361143457 rs1404550821 |
113 | A>T | No |
ClinGen gnomAD |
|
|
CA361143440 rs1444189124 |
115 | L>P | No |
ClinGen TOPMed |
|
|
rs866636274 CA128243877 |
118 | A>T | No |
ClinGen Ensembl |
|
|
CA361143336 rs1161959105 |
122 | L>P | No |
ClinGen TOPMed |
|
|
rs1036535963 CA128243869 |
127 | W>R | No |
ClinGen Ensembl |
|
|
rs1158258549 CA361143224 |
130 | P>L | No |
ClinGen gnomAD |
|
|
rs754423492 CA3434183 |
131 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361143071 rs1214949739 CA361143074 |
134 | E>D | No |
ClinGen gnomAD |
|
|
rs1294515889 CA361143086 |
134 | E>G | No |
ClinGen gnomAD |
|
|
rs1334640827 CA361143056 |
135 | I>N | No |
ClinGen gnomAD |
|
|
CA361143051 rs1334640827 |
135 | I>S | No |
ClinGen gnomAD |
|
|
rs866803922 CA128243668 |
137 | G>D | No |
ClinGen Ensembl |
|
|
CA3434162 rs115153492 |
137 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1338195165 CA361142950 |
139 | W>C | No |
ClinGen gnomAD |
|
|
rs1460097483 CA361142946 |
140 | S>R | No |
ClinGen gnomAD |
|
|
rs1215855627 CA361142923 |
141 | L>P | No |
ClinGen gnomAD |
|
|
rs748662315 CA3434161 |
142 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361142847 rs1233846866 |
146 | S>P | No |
ClinGen TOPMed |
|
|
CA3434160 rs199550338 |
147 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128243616 rs755323743 |
152 | R>G | No |
ClinGen ExAC TOPMed |
|
|
CA3434158 rs201746992 |
152 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755323743 CA3434159 |
152 | R>W | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 153 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3434156 rs758588024 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766591026 CA3434157 COSM1061525 |
154 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361142437 rs1229701939 |
157 | Q>H | No |
ClinGen gnomAD |
|
|
CA361142427 rs1487286582 |
158 | G>D | No |
ClinGen gnomAD |
|
|
CA361142402 rs1223525853 |
160 | I>T | No |
ClinGen TOPMed |
|
|
CA3434120 rs746131472 |
160 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282269646 CA361142394 |
161 | M>V | No |
ClinGen gnomAD |
|
|
rs1405233322 CA361142378 |
162 | V>L | No |
ClinGen gnomAD |
|
|
CA3434119 rs151090514 |
163 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757351823 CA3434118 |
164 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs987874496 CA128243285 |
164 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 164 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187605953 CA3434117 COSM735495 |
164 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA3434116 rs777964093 |
165 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428735725 CA361142328 |
166 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752664518 CA3434114 |
166 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1479162804 CA361142309 |
168 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361142295 rs1581374720 |
169 | V>G | No |
ClinGen Ensembl |
|
|
CA361142288 rs767275003 |
170 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3434112 rs759371337 |
170 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3434113 rs767275003 |
170 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766070272 CA3434110 |
175 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA361142247 rs1324471952 |
176 | P>L | No |
ClinGen gnomAD |
|
|
rs1459564974 CA361142246 |
177 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361142236 rs1262016635 |
178 | A>V | No |
ClinGen gnomAD |
|
|
CA361142234 rs1277677190 |
179 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361142204 rs1223727999 |
183 | I>T | No |
ClinGen gnomAD |
|
|
rs1268732360 CA361142180 |
185 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769261714 CA3434106 |
187 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361142143 rs1581374541 |
189 | T>P | No |
ClinGen Ensembl |
|
|
CA361142126 rs1405425049 |
190 | P>H | No |
ClinGen gnomAD |
|
|
CA361142123 rs1405425049 |
190 | P>L | No |
ClinGen gnomAD |
|
|
CA3434105 rs373944413 |
190 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361142121 rs1416318189 |
191 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA128243176 rs981878107 |
191 | T>S | No |
ClinGen TOPMed |
|
|
CA361142094 rs1474977896 |
193 | S>Y | No |
ClinGen gnomAD |
|
|
CA128243169 rs969113997 |
194 | L>F | No |
ClinGen gnomAD |
|
|
CA361142076 rs1383316773 |
195 | I>T | No |
ClinGen TOPMed |
|
|
rs772382592 CA3434102 |
195 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1203752351 CA361142056 |
197 | L>F | No |
ClinGen gnomAD |
|
|
CA361142032 rs1443742427 |
199 | V>A | No |
ClinGen gnomAD |
|
|
CA361141975 rs1340472704 |
203 | A>V | No |
ClinGen gnomAD |
|
|
CA361141961 rs1244419249 |
205 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs141167635 CA3434098 |
206 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361141939 rs1315749977 |
206 | R>L | No |
ClinGen gnomAD |
|
|
CA361141943 rs1315749977 |
206 | R>Q | No |
ClinGen gnomAD |
|
|
CA3434095 rs752748737 |
207 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA361141927 rs752748737 |
207 | A>V | Variant assessed as Somatic; 6.164e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA128243077 rs891282159 |
208 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1410787856 CA361141889 |
210 | H>Q | No |
ClinGen gnomAD |
|
|
rs1370922002 CA361141878 |
211 | W>* | No |
ClinGen gnomAD |
|
|
CA361141872 rs1245334800 |
211 | W>C | No |
ClinGen TOPMed |
|
|
CA361141838 rs1422592061 |
214 | S>L | No |
ClinGen gnomAD |
|
|
rs1030257852 CA128243063 |
215 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1384561954 CA361141832 |
215 | A>T | No |
ClinGen gnomAD |
|
|
CA361141824 rs1030257852 |
215 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3434076 VAR_053451 rs34521685 |
218 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1293966977 CA361140484 |
219 | L>V | No |
ClinGen gnomAD |
|
|
rs1343379891 CA361140444 |
222 | I>T | No |
ClinGen gnomAD |
|
|
CA3434075 rs576789748 |
223 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 225 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581373563 CA361140375 |
227 | Y>S | No |
ClinGen Ensembl |
|
|
CA3434072 rs746889166 |
229 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361140363 rs1426303716 |
229 | R>H | Variant assessed as Somatic; 4.751e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746889166 CA3434073 |
229 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361140355 rs1581373525 |
230 | N>T | No |
ClinGen Ensembl |
|
|
CA361140346 rs1581373515 |
232 | T>P | No |
ClinGen Ensembl |
|
|
CA128242805 rs948623357 |
235 | L>P | No |
ClinGen TOPMed |
|
|
CA361140316 rs1335232215 |
237 | V>L | No |
ClinGen TOPMed |
|
|
rs758176650 CA3434070 |
239 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128242785 rs558832900 |
239 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1581373415 CA361140283 |
242 | K>E | No |
ClinGen Ensembl |
|
|
rs750139179 CA3434069 |
247 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA128242730 rs866729030 |
248 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3434068 rs764870945 |
248 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 249 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3434067 rs756842191 |
249 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361140210 rs1220762074 |
253 | K>R | No |
ClinGen gnomAD |
|
|
CA361140198 rs1341955976 |
254 | M>I | No |
ClinGen TOPMed |
|
|
CA361140206 rs1261630666 |
254 | M>L | No |
ClinGen TOPMed |
|
|
CA3434051 rs145776418 |
257 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753411444 CA3434049 |
258 | M>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_053452 CA3434050 rs35817838 RCV000966963 |
258 | M>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3434048 rs777401083 |
259 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1354311830 CA361140077 |
260 | A>D | No |
ClinGen gnomAD |
|
|
CA128242528 rs915786261 |
262 | M>I | No |
ClinGen TOPMed |
|
|
rs1432107279 CA361140040 |
262 | M>R | No |
ClinGen gnomAD |
|
|
CA361139997 rs1192150936 |
264 | V>A | No |
ClinGen TOPMed |
|
|
rs33972313 CA361140004 CA361140002 |
264 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs33972313 VAR_053453 CA3434046 |
264 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3434044 rs763508174 |
265 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1581372675 CA361139947 |
267 | L>V | No |
ClinGen Ensembl |
|
|
CA361139910 rs1205621631 |
269 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361139887 rs1561979147 |
270 | V>F | No |
ClinGen Ensembl |
|
|
CA3434037 rs775489994 |
276 | V>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 279 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247679327 CA361139722 |
281 | P>S | No |
ClinGen TOPMed |
|
|
rs1308966083 CA361139686 |
285 | G>C | No |
ClinGen gnomAD |
|
|
rs982858990 CA128242423 |
286 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3434035 rs377613010 |
289 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA128242421 rs377613010 |
289 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1243048496 CA361139659 |
289 | R>Q | No |
ClinGen TOPMed |
|
|
CA361139651 rs1383227757 |
290 | T>P | No |
ClinGen gnomAD |
|
|
rs770619779 CA3434033 |
291 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361139622 rs1185639165 |
292 | A>D | No |
ClinGen TOPMed |
|
|
rs777295504 CA3434031 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1061522 rs755738741 CA3434030 |
293 | R>C | endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752174683 CA3434029 |
293 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128242337 rs151281788 |
294 | G>S | No |
ClinGen 1000Genomes |
|
|
rs1365632315 CA361139564 |
296 | I>N | No |
ClinGen TOPMed |
|
|
rs1182577323 CA361139525 |
298 | A>D | No |
ClinGen gnomAD |
|
|
CA361139523 rs1182577323 |
298 | A>G | No |
ClinGen gnomAD |
|
|
rs374118860 CA128242319 |
298 | A>T | No |
ClinGen ESP |
|
|
rs1481727717 CA361139509 |
299 | I>T | No |
ClinGen gnomAD |
|
|
CA3434027 rs759016045 |
300 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750940782 CA3434026 |
300 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1454742629 CA361139473 |
302 | W>R | No |
ClinGen TOPMed |
|
|
rs765751908 CA3434025 |
303 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA361139441 rs1266638544 |
304 | R>C | No |
ClinGen gnomAD |
|
|
CA361139442 rs1266638544 |
304 | R>G | No |
ClinGen gnomAD |
|
|
CA128242281 rs866364914 |
304 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3434024 rs762075355 |
305 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1229903882 CA361139427 |
306 | P>L | No |
ClinGen gnomAD |
|
|
rs754164140 CA3434023 |
306 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361139416 rs1387784357 |
308 | P>H | No |
ClinGen gnomAD |
|
|
CA3434022 rs764234836 |
308 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs139127139 CA128242042 |
311 | W>* | No |
ClinGen ESP |
|
|
CA361139372 rs1334214632 |
312 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 313 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3433987 rs749501846 |
315 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757734345 CA128242014 |
318 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3433985 rs757734345 |
318 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 319 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156597606 CA361139333 |
320 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044351020 CA128242000 |
321 | V>A | No |
ClinGen gnomAD |
|
|
rs778058535 CA3433983 |
322 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA361139317 rs1163352327 |
323 | G>R | No |
ClinGen gnomAD |
|
|
rs777918355 CA128241992 |
324 | M>I | No |
ClinGen Ensembl |
|
|
CA361139301 rs1409355589 |
325 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1561978408 CA361139295 |
326 | S>G | No |
ClinGen Ensembl |
|
|
rs759963969 CA3433981 |
326 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361139289 rs1483574233 |
327 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 328 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361139275 rs1554160768 |
329 | L>Q | No |
ClinGen Ensembl |
|
|
rs755148225 CA3433978 |
332 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3433977 rs200925380 |
333 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361139235 rs1561978308 |
335 | S>C | No |
ClinGen Ensembl |
|
|
rs1029046980 CA128241919 |
337 | G>* | No |
ClinGen Ensembl |
|
|
rs1561978274 CA361139217 |
338 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 338 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761701699 CA3433971 |
340 | Y>N | No |
ClinGen ExAC |
|
|
CA3433969 rs141189553 |
341 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361139189 rs1353596116 |
342 | C>Y | No |
ClinGen gnomAD |
|
|
CA128241912 rs369048153 |
343 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA128241911 rs369048153 |
343 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs760362537 CA3433967 |
344 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3433966 rs774901861 |
346 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1414565181 CA361139161 |
347 | G>V | No |
ClinGen gnomAD |
|
|
CA361139148 rs771587041 |
350 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3433964 rs771587041 |
350 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs148214051 CA361139143 |
351 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3433963 rs148214051 |
351 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3433961 rs770228935 |
352 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs576707445 CA3433962 |
352 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361139126 rs1561978132 |
354 | H>Y | No |
ClinGen Ensembl |
|
|
rs748534553 CA3433960 |
355 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1162047629 CA361138994 |
361 | F>L | No |
ClinGen TOPMed |
|
|
CA3433936 rs780325266 |
362 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115023155 CA128241603 |
363 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA361138951 rs758487240 |
364 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3433935 rs758487240 |
364 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361138897 rs1428314735 |
368 | I>N | No |
ClinGen gnomAD |
|
|
COSM3696933 rs1390139377 CA361138866 |
370 | A>V | large_intestine Variant assessed as Somatic; 4.797e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1483704217 CA361138821 |
374 | G>C | No |
ClinGen gnomAD |
|
|
rs766464020 CA128241550 |
375 | T>M | No |
ClinGen Ensembl |
|
|
CA361138771 TCGA novel rs1339925786 |
378 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs137952208 CA3433925 |
380 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759070834 CA3433926 |
380 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs765857563 CA3433924 |
381 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361138713 rs1379459339 |
383 | S>G | No |
ClinGen gnomAD |
|
|
rs1315132509 CA361138709 |
383 | S>N | No |
ClinGen gnomAD |
|
|
rs762367240 CA3433923 |
386 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA128241482 rs1038790094 |
387 | G>A | No |
ClinGen gnomAD |
|
|
rs777121255 CA3433922 |
388 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1463693667 CA361138637 |
389 | L>M | No |
ClinGen TOPMed |
|
|
CA3433921 rs377248719 |
391 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1164191904 CA361138611 |
393 | K>Q | No |
ClinGen gnomAD |
|
|
rs1329750368 CA361138564 |
394 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 397 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3433904 rs764679068 |
398 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128241251 rs764679068 |
398 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3433901 rs772301885 |
399 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1373281153 CA361138512 |
399 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1456854225 CA361138500 |
400 | V>M | No |
ClinGen gnomAD |
|
|
CA361138466 rs1581367470 |
402 | Y>C | No |
ClinGen Ensembl |
|
|
rs1389684301 CA361138472 |
402 | Y>H | No |
ClinGen gnomAD |
|
|
CA3433900 rs746158473 |
403 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774710051 CA361138442 |
404 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3433899 rs774710051 |
404 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053398424 CA128241239 |
406 | I>T | No |
ClinGen TOPMed |
|
|
CA361138399 rs1581367374 |
407 | M>I | No |
ClinGen Ensembl |
|
|
rs1186150486 CA361138376 |
411 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1325807392 CA361138358 |
413 | I>M | No |
ClinGen gnomAD |
|
|
CA361138345 rs1464131151 |
415 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA361138330 rs1268338976 |
417 | T>M | No |
ClinGen gnomAD |
|
|
CA361138325 rs1300174711 |
418 | A>D | No |
ClinGen TOPMed |
|
|
rs6596474 CA361138307 |
421 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6596474 VAR_062111 CA128241216 |
421 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3433894 rs748017626 COSM3765163 |
422 | S>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs892842992 CA128241203 |
423 | L>V | No |
ClinGen Ensembl |
|
|
rs781103855 CA3433893 |
424 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361138266 rs1295432217 |
426 | P>S | No |
ClinGen gnomAD |
|
|
CA361138224 rs1434501762 |
430 | G>S | No |
ClinGen gnomAD |
|
|
rs1320521278 CA361138200 |
431 | M>I | No |
ClinGen gnomAD |
|
|
rs1324004227 CA361138208 |
431 | M>T | No |
ClinGen TOPMed |
|
|
CA3433891 rs751291688 |
432 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1399712739 CA361138160 |
433 | C>Y | No |
ClinGen gnomAD |
|
|
rs1302029299 CA361138144 |
434 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3433856 rs776719674 |
438 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs548475387 CA3433855 |
439 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746915461 CA3433854 |
439 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779869441 CA3433853 |
444 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 446 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771839489 CA3433850 |
446 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3433849 rs745598635 |
447 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA128288671 rs749195104 |
449 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1227590693 CA361162053 |
449 | F>L | No |
ClinGen gnomAD |
|
|
rs756885718 CA3433847 TCGA novel |
452 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA361162020 rs1318853227 |
452 | M>K | No |
ClinGen TOPMed |
|
|
rs778434470 CA3433848 |
452 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326013327 CA361161962 |
456 | R>L | No |
ClinGen gnomAD |
|
|
rs753319540 CA3433845 |
457 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA128288646 rs982840102 |
458 | L>F | No |
ClinGen TOPMed |
|
|
rs777308625 CA3433844 |
460 | V>M | No |
ClinGen ExAC |
|
|
CA3433840 rs766920510 |
462 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3696932 rs769262149 CA128288619 |
462 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA361161848 rs1401632256 |
464 | S>F | No |
ClinGen gnomAD |
|
|
CA361161833 rs1410695011 |
465 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868427359 CA128288611 |
468 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs565961834 CA3433838 |
469 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3433837 rs116659253 |
470 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1026260200 CA128288591 |
471 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs532160398 CA361161638 |
473 | N>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs532160398 CA128288587 |
473 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs762050478 CA3433836 |
477 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1018094180 CA128288579 |
479 | P>H | No |
ClinGen TOPMed |
|
|
rs776612184 CA3433835 |
479 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776612184 CA361161522 |
479 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965924001 CA128288575 |
481 | A>T | No |
ClinGen Ensembl |
|
|
CA3433833 rs760662018 |
484 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA361161394 rs1217350053 |
484 | T>I | No |
ClinGen gnomAD |
|
|
CA361161229 rs1280934183 |
490 | D>N | No |
ClinGen gnomAD |
|
|
CA361161220 rs1236482159 |
491 | Q>E | No |
ClinGen gnomAD |
|
|
rs764224828 CA3433817 |
494 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294234683 CA361161174 |
495 | V>A | No |
ClinGen gnomAD |
|
|
rs760745876 CA3433816 |
499 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA361161137 rs1346990195 |
500 | E>K | No |
ClinGen Ensembl |
|
|
CA3433814 rs767463865 |
501 | M>T | No |
ClinGen ExAC TOPMed |
|
|
rs1447719642 CA361161086 |
504 | G>D | No |
ClinGen gnomAD |
|
|
rs1315334437 CA361161085 |
505 | G>R | No |
ClinGen gnomAD |
|
|
rs370429789 CA3433812 |
508 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370429789 CA3433813 |
508 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770748788 CA361161011 |
511 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3433810 rs748963937 |
511 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3433811 rs770748788 |
511 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA361160984 rs1246886595 |
513 | N>D | No |
ClinGen TOPMed |
|
|
rs769516713 CA3433808 |
514 | T>S | No |
ClinGen ExAC |
|
|
CA3433807 rs569724761 |
515 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361160947 rs1561975809 |
516 | P>S | No |
ClinGen Ensembl |
|
|
rs1180886899 CA361159917 |
518 | S>G | No |
ClinGen TOPMed |
|
|
CA361159893 rs1581350772 |
519 | P>R | No |
ClinGen Ensembl |
|
|
CA3433785 rs771283800 |
520 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1393720132 CA361159858 |
522 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761357084 CA3433784 |
522 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3433782 rs756378577 |
525 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs72552250 CA3433781 |
526 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3433780 rs373778813 |
527 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128284410 rs915905068 |
528 | K>E | No |
ClinGen Ensembl |
|
|
rs755092600 CA361159769 |
529 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755092600 CA3433779 |
529 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1469375551 CA361159752 |
531 | A>P | No |
ClinGen TOPMed |
|
|
rs751538059 CA3433778 |
533 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959315577 CA128284380 |
535 | S>R | No |
ClinGen Ensembl |
|
|
rs1192502654 CA361159681 |
536 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs766366947 CA3433777 |
536 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750279099 CA3433775 |
537 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3433776 rs762763454 |
537 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950627209 CA128284353 |
544 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200264889 CA3433773 |
545 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201565759 CA3433770 |
547 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3433768 rs771499253 |
548 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3433769 rs774813941 |
548 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361159502 rs1373345517 |
551 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1318768903 CA361159486 |
552 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3433767 rs749773594 |
553 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150461696 CA3433766 |
554 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3433765 rs770140925 |
555 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs951256137 COSM1671908 CA361159454 |
555 | R>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs951256137 CA128284276 |
555 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3433764 rs748446580 |
557 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755109818 CA3433762 |
562 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs976667229 CA128284262 |
566 | P>A | No |
ClinGen TOPMed |
|
|
rs1430292467 CA361159255 |
570 | G>E | No |
ClinGen TOPMed |
|
|
rs1454323206 CA361159252 |
571 | F>L | No |
ClinGen gnomAD |
|
|
rs1396435729 CA361159238 COSM1433461 |
572 | S>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3433761 rs747148257 |
573 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3433760 rs779970977 |
574 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 575 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3433759 rs758454087 |
575 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3433757 rs765188125 |
577 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3433756 rs757120447 |
577 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs763828397 CA3433754 |
579 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760203717 CA3433753 |
580 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA361159113 rs1327281767 |
581 | I>T | No |
ClinGen gnomAD |
|
|
rs530752062 CA3433752 |
584 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530752062 CA3433751 |
584 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361159064 rs1462882704 |
585 | T>A | No |
ClinGen TOPMed |
|
|
rs569913696 CA128284203 |
585 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs569913696 CA361159058 |
585 | T>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs773714572 CA3433749 |
589 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA361158991 rs1376685249 |
590 | E>D | No |
ClinGen gnomAD |
|
|
CA361159001 rs1435270827 |
590 | E>K | No |
ClinGen gnomAD |
|
|
CA3433748 rs770230878 |
593 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA128284185 rs964987207 |
594 | V>A | No |
ClinGen TOPMed |
|
|
CA361158951 rs1474852192 COSM1433460 |
594 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs776824857 CA3433746 |
597 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs115102991 CA3433744 |
598 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q9UHI7
1 regional properties for Q9UHI7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | NIF system FeS cluster assembly, NifU, N-terminal | 33 - 176 | IPR002871 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basal plasma membrane | The region of the plasma membrane located at the basal end 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. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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 organelle | Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| dehydroascorbic acid transmembrane transporter activity | Enables the transfer of dehydroascorbate, 5-(1,2-dihydroxyethyl)furan-2,3,4(5H)-trione, from one side of a membrane to the other. |
| L-ascorbate:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: L-ascorbate(out) + Na+(out) = L-ascorbate(in) + Na+(in). |
| L-ascorbic acid transmembrane transporter activity | Enables the transfer of L-ascorbate from one side of a membrane to the other. L-ascorbate, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate, is vitamin C and has co-factor and anti-oxidant activities in many species. |
| nucleobase transmembrane transporter activity | Enables the transfer of a nucleobase, any nitrogenous base that is a constituent of a nucleoside, nucleotide, or nucleic acidfrom one side of a membrane to the other. |
| sodium ion transmembrane transporter activity | Enables the transfer of sodium ions (Na+) from one side of a membrane to the other. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| dehydroascorbic acid transport | The directed movement of dehydroascorbate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dehydroascorbate, 5-(1,2-dihydroxyethyl)furan-2,3,4(5H)-trione, is an oxidized form of vitamin C. |
| L-ascorbic acid metabolic process | The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. |
| L-ascorbic acid transmembrane transport | The process in which L-ascorbic acid is transported across a lipid bilayer, from one side of a membrane to the other. L-ascorbate, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate, is vitamin C and has co-factor and anti-oxidant activities in many species. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| nucleobase transport | The directed movement of a nucleobase, any nitrogenous base that is a constituent of a nucleoside, nucleotide, or nucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRAQEDLEGR | TQHETTRDPS | TPLPTEPKFD | MLYKIEDVPP | WYLCILLGFQ | HYLTCFSGTI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVPFLLAEAL | CVGHDQHMVS | QLIGTIFTCV | GITTLIQTTV | GIRLPLFQAS | AFAFLVPAKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ILALERWKCP | PEEEIYGNWS | LPLNTSHIWH | PRIREVQGAI | MVSSVVEVVI | GLLGLPGALL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NYIGPLTVTP | TVSLIGLSVF | QAAGDRAGSH | WGISACSILL | IILFSQYLRN | LTFLLPVYRW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GKGLTLLRIQ | IFKMFPIMLA | IMTVWLLCYV | LTLTDVLPTD | PKAYGFQART | DARGDIMAIA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PWIRIPYPCQ | WGLPTVTAAA | VLGMFSATLA | GIIESIGDYY | ACARLAGAPP | PPVHAINRGI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FTEGICCIIA | GLLGTGNGST | SSSPNIGVLG | ITKVGSRRVV | QYGAAIMLVL | GTIGKFTALF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ASLPDPILGG | MFCTLFGMIT | AVGLSNLQFV | DMNSSRNLFV | LGFSMFFGLT | LPNYLESNPG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AINTGILEVD | QILIVLLTTE | MFVGGCLAFI | LDNTVPGSPE | ERGLIQWKAG | AHANSDMSSS |
| 550 | 560 | 570 | 580 | 590 | |
| LKSYDFPIGM | GIVKRITFLK | YIPICPVFKG | FSSSSKDQIA | IPEDTPENTE | TASVCTKV |