Q9UGH3
PR
Gene name |
SLC23A2 |
Protein name |
Solute carrier family 23 member 2 |
Names |
Na(+)/L-ascorbic acid transporter 2, Nucleobase transporter-like 1 protein, Sodium-dependent vitamin C transporter 2, hSVCT2, Yolk sac permease-like molecule 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9962 |
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 Q9UGH3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UGH3-F1 | Predicted | AlphaFoldDB |
342 variants for Q9UGH3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1238010767 CA408257337 |
2 | M>I | No |
ClinGen TOPMed |
|
|
rs1239923522 CA408257268 |
12 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768191674 CA9753325 |
13 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753326 rs377619300 |
13 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311025595 rs199664101 |
15 | A>T | No |
ClinGen TOPMed |
|
|
CA408257240 rs1600146018 |
17 | S>G | No |
ClinGen Ensembl |
|
|
rs1197082437 CA408257226 |
19 | T>A | No |
ClinGen TOPMed |
|
|
rs748979613 CA9753324 |
21 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs192386750 CA9753323 |
23 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1600145994 CA408257191 |
24 | E>K | No |
ClinGen Ensembl |
|
|
rs781758778 CA9753320 |
26 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 27 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940118817 CA311025594 |
27 | A>V | No |
ClinGen TOPMed |
|
|
CA408257140 rs374207277 |
31 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374207277 CA311025593 |
31 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408257142 rs1440697449 |
31 | A>P | No |
ClinGen gnomAD |
|
|
rs374207277 CA9753319 |
31 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751863955 CA408257122 |
34 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753318 rs751863955 |
34 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390935080 CA408257112 |
36 | P>A | No |
ClinGen gnomAD |
|
|
CA9753317 rs764575805 |
36 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1489373163 CA408257094 |
37 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408257064 rs1407159116 |
41 | G>E | No |
ClinGen TOPMed |
|
|
rs895496870 CA311023435 |
42 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA311023434 rs1003862638 |
43 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs368985081 CA9753296 |
43 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9753297 rs368985081 |
43 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79938474 CA9753295 |
46 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9753293 COSM179034 RCV000902073 rs142322986 |
47 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA408257024 rs1397783734 |
48 | E>D | No |
ClinGen gnomAD |
|
|
CA408257003 rs375929033 |
51 | N>I | No |
ClinGen ESP ExAC |
|
|
rs375929033 CA9753292 |
51 | N>S | No |
ClinGen ESP ExAC |
|
|
CA9753291 rs147670595 |
53 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408256992 rs1310072820 |
53 | D>N | No |
ClinGen TOPMed |
|
|
rs1478935194 CA408256971 |
56 | L>I | No |
ClinGen gnomAD |
|
|
CA408256966 rs1264159379 |
56 | L>P | No |
ClinGen gnomAD |
|
|
rs1484715771 CA408256958 |
57 | M>I | No |
ClinGen gnomAD |
|
|
rs1187400131 CA408256961 |
57 | M>T | No |
ClinGen gnomAD |
|
|
CA408256953 rs1239768882 |
58 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408256947 rs1215617947 |
59 | I>N | No |
ClinGen TOPMed |
|
|
rs1178594901 CA408256934 |
61 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9753289 rs775188069 |
61 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769565937 CA9753288 |
62 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9753287 rs759317661 |
62 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9753285 rs770571601 |
64 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556171693 CA9753283 |
65 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9753259 rs541978464 |
70 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756327233 CA408256853 |
71 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753258 rs756327233 |
71 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408256850 rs1423495069 |
72 | L>F | No |
ClinGen TOPMed |
|
|
rs953295363 CA311022278 |
72 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408256846 rs781185548 |
73 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753256 rs781185548 |
73 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1027931 CA408256836 rs1242261019 |
74 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1377457195 CA408256832 |
75 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758297151 CA9753255 |
76 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9753254 rs536287477 |
81 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs754841827 CA9753252 |
82 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9753250 rs766025267 |
83 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408256774 rs1420853876 |
84 | P>R | No |
ClinGen gnomAD |
|
|
rs200765683 CA311022276 |
86 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1314206065 CA408256748 |
88 | D>E | No |
ClinGen TOPMed |
|
|
CA408256745 rs1174486727 |
89 | M>V | No |
ClinGen gnomAD |
|
|
CA408256730 rs1376388865 |
91 | Y>N | No |
ClinGen TOPMed |
|
|
rs1435251888 CA408256721 |
92 | T>A | No |
ClinGen gnomAD |
|
|
CA408256711 rs1160014513 |
93 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA408256714 rs1307340423 |
93 | I>T | No |
ClinGen TOPMed |
|
|
CA9753249 rs760314010 |
93 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238442140 CA408256702 |
95 | D>N | No |
ClinGen TOPMed |
|
|
CA9753231 rs755738686 |
109 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA311021978 rs946853309 |
115 | S>C | No |
ClinGen Ensembl |
|
|
rs761285478 CA9753228 |
116 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs751107544 CA9753227 |
117 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408256532 rs1354930010 |
118 | I>T | No |
ClinGen gnomAD |
|
|
COSM1027929 CA9753224 rs775864587 |
119 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9753223 rs770057790 |
119 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408256509 rs1298018625 |
122 | F>S | No |
ClinGen gnomAD |
|
|
rs776741149 CA9753221 |
126 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1322211074 CA408256487 |
126 | D>N | No |
ClinGen TOPMed |
|
|
rs774385483 CA311021976 |
130 | V>L | No |
ClinGen Ensembl |
|
|
CA9753220 rs142422867 |
132 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311021974 rs982512391 |
133 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1184708132 CA408256421 |
135 | W>* | No |
ClinGen gnomAD |
|
|
CA9753218 rs778067502 |
135 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA408256414 rs1600112862 COSM3693571 |
136 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs768704914 CA9753217 |
139 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA408256378 rs1456263380 |
141 | I>T | No |
ClinGen gnomAD |
|
|
rs1243543328 CA408256373 |
142 | G>E | No |
ClinGen TOPMed |
|
|
CA408256288 rs1282512216 |
155 | Q>* | No |
ClinGen gnomAD |
|
|
rs750277300 CA9753213 |
157 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377561504 CA9753212 |
157 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 157 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408256209 rs1382077688 |
165 | F>S | No |
ClinGen gnomAD |
|
|
rs1159096344 CA408256194 |
167 | A>D | No |
ClinGen gnomAD |
|
|
CA408256162 rs1480912633 |
172 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 173 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9753181 rs760916260 |
176 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773602594 CA9753180 |
177 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs773602594 CA408256131 |
177 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1452361960 CA408256128 |
177 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1452361960 CA408256130 |
177 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1358806318 CA408256121 |
179 | I>L | No |
ClinGen TOPMed |
|
|
CA311020386 rs148423778 |
181 | S>C | No |
ClinGen ESP |
|
|
CA408256083 rs371670701 |
184 | K>N | No |
ClinGen gnomAD |
|
|
CA408256073 rs1399665448 |
185 | W>C | No |
ClinGen TOPMed |
|
|
CA9753179 rs763351316 |
188 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408256044 rs1190842667 |
189 | T>N | No |
ClinGen gnomAD |
|
|
rs113426187 CA311020281 |
191 | D>G | No |
ClinGen gnomAD |
|
|
CA408256018 rs1250253456 |
192 | V>I | No |
ClinGen TOPMed |
|
|
rs1488561144 CA408255998 |
195 | A>S | No |
ClinGen TOPMed |
|
|
rs747608999 CA9753169 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569941143 CA9753168 |
200 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408255948 rs1341858803 |
203 | H>Y | No |
ClinGen gnomAD |
|
|
rs1194796106 CA408255937 |
204 | T>I | No |
ClinGen TOPMed |
|
|
rs1270231890 CA408255921 |
206 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs879273161 CA311020279 |
207 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1568609196 CA408255890 |
211 | R>W | No |
ClinGen Ensembl |
|
|
rs1357299182 CA408255885 |
212 | I>V | No |
ClinGen gnomAD |
|
|
CA408255876 rs200887058 |
213 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9753166 rs200887058 |
213 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403642325 CA408255838 |
217 | G>W | No |
ClinGen gnomAD |
|
|
rs1459945807 CA408255823 |
219 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600098132 CA408255796 |
223 | S>L | No |
ClinGen Ensembl |
|
|
rs1600098109 CA408255787 |
225 | I>V | No |
ClinGen Ensembl |
|
|
CA9753145 rs541743816 |
230 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408255737 rs1184059643 |
233 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9753141 rs751838227 |
235 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1270216459 CA408255710 |
237 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408255715 rs1352825291 |
237 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9753139 rs763066119 |
243 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 245 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408255655 rs1339619791 |
246 | T>S | No |
ClinGen gnomAD |
|
|
CA9753138 rs752815325 |
250 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs879133851 CA311020190 |
252 | A>D | No |
ClinGen Ensembl |
|
|
CA408255589 rs1434517248 |
257 | S>C | No |
ClinGen gnomAD |
|
|
rs1568608742 CA408255565 |
261 | A>T | No |
ClinGen Ensembl |
|
|
CA9753136 rs760665771 |
262 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9753131 rs2298173 |
272 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408255479 rs1267051693 |
273 | A>V | No |
ClinGen gnomAD |
|
|
rs1230715943 CA408166133 |
277 | I>V | No |
ClinGen gnomAD |
|
|
rs199719711 CA9753096 |
278 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408166066 COSM3841270 rs1176732427 |
287 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 289 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311125397 rs923761239 |
291 | K>Q | No |
ClinGen Ensembl |
|
|
CA311125389 rs868360472 |
293 | P>S | No |
ClinGen Ensembl |
|
|
CA9753093 rs554770096 |
295 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775303356 CA9753090 |
300 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9753086 rs771456273 |
307 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408165915 rs1198256790 |
309 | Q>* | No |
ClinGen gnomAD |
|
|
COSM359663 rs773560616 CA9753084 |
313 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759168910 CA9753069 |
316 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs776150567 CA9753068 |
317 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1302798045 CA408165840 |
318 | L>M | No |
ClinGen gnomAD |
|
|
rs1248804525 CA408165820 |
321 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408165802 rs1568605113 |
324 | W>L | No |
ClinGen Ensembl |
|
|
rs765812355 CA9753067 |
329 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408165750 rs1309062012 |
331 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9753066 rs761206168 |
333 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs902441747 CA311125090 |
335 | V>I | No |
ClinGen TOPMed |
|
|
CA9753064 rs772604898 |
337 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1389396528 CA408165708 |
338 | P>R | No |
ClinGen gnomAD |
|
|
rs762140074 CA9753063 |
338 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753061 rs141241991 |
339 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1453294674 CA408165707 |
339 | D>N | No |
ClinGen TOPMed |
|
|
rs749488564 CA9753060 |
340 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1338214671 CA408165688 |
341 | T>I | No |
ClinGen TOPMed |
|
|
CA311125074 rs554250423 |
342 | K>T | No |
ClinGen gnomAD |
|
|
CA9753059 rs780135308 |
345 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs777833284 CA9753057 |
346 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753056 rs777833284 |
346 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777833284 CA408165656 |
346 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331637883 CA408165645 |
348 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408165644 rs1568605051 |
348 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs148249953 CA9753053 |
349 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9753052 rs754600776 |
349 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs148249953 CA311125058 |
349 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1490675158 CA408165610 |
353 | Q>H | No |
ClinGen gnomAD |
|
|
CA408165602 rs760070455 |
355 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760070455 CA9753049 COSM1326680 |
355 | V>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs767995600 CA9753047 |
360 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408165564 rs1568605002 |
361 | W>C | No |
ClinGen Ensembl |
|
|
CA9753044 rs768927456 |
361 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs763196675 CA9753043 |
362 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408165545 rs1366171894 |
364 | V>F | No |
ClinGen gnomAD |
|
|
CA9753019 rs774122374 |
374 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9753016 rs779962383 |
375 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779962383 CA9753017 |
375 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924661982 CA311123472 |
377 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756731874 CA9753012 |
379 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354402375 CA408165429 |
381 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9753009 rs759011033 |
382 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1270675776 CA408165409 |
384 | L>V | No |
ClinGen gnomAD |
|
|
CA408165378 rs1218462189 |
388 | V>D | No |
ClinGen TOPMed |
|
|
CA408165379 rs1218462189 |
388 | V>G | No |
ClinGen TOPMed |
|
|
rs777023911 CA9753005 |
389 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 390 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411707797 CA408165350 |
393 | E>K | No |
ClinGen gnomAD |
|
|
rs760812276 CA9753003 |
396 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9753000 rs749249454 COSM1166827 |
400 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 401 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9752998 rs769611937 |
403 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 405 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408165262 rs1568603450 |
406 | C>Y | No |
ClinGen Ensembl |
|
|
CA311123421 rs1030454396 |
407 | A>V | No |
ClinGen TOPMed |
|
|
CA9752995 rs377384731 |
409 | P>L | No |
ClinGen ExAC |
|
|
CA9752994 rs377384731 |
409 | P>R | No |
ClinGen ExAC |
|
|
CA311123414 rs200438477 |
409 | P>S | No |
ClinGen 1000Genomes |
|
|
CA408165247 rs200438477 |
409 | P>T | No |
ClinGen 1000Genomes |
|
|
rs760957935 CA311123405 |
410 | P>A | No |
ClinGen gnomAD |
|
|
CA9752990 rs765478407 |
410 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA311123401 rs765478407 |
410 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760957935 CA408165244 |
410 | P>T | No |
ClinGen gnomAD |
|
|
CA9752987 rs149003302 |
411 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9752985 rs149003302 |
411 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9752986 rs149003302 |
411 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775470346 CA311123377 |
412 | I>L | No |
ClinGen ExAC TOPMed |
|
|
CA408165235 rs1440645133 |
412 | I>T | No |
ClinGen TOPMed |
|
|
CA9752982 rs775470346 |
412 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs1186174632 CA408165230 |
413 | H>P | No |
ClinGen TOPMed |
|
|
rs1600084087 CA408165224 |
414 | A>P | No |
ClinGen Ensembl |
|
|
CA408165219 rs1568603388 |
415 | I>V | No |
ClinGen Ensembl |
|
|
CA9752978 rs759316699 |
416 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9752977 rs776477559 |
417 | R>M | No |
ClinGen ExAC gnomAD |
|
|
COSM3939402 CA9752953 rs769216062 |
421 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9752952 rs749822810 |
424 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750805911 CA9752949 |
426 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781465303 CA408165122 |
428 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA9752948 rs781465303 |
428 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA408165106 rs868729074 |
430 | G>A | No |
ClinGen gnomAD |
|
|
CA311122458 rs868729074 |
430 | G>D | No |
ClinGen gnomAD |
|
|
rs757490678 CA9752947 |
431 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408165009 rs1467839838 |
445 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA408165012 rs1214143474 |
445 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764172180 CA9752945 |
448 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768889427 CA9752927 |
454 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9752926 rs375613788 |
456 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359327560 CA408164923 |
457 | R>C | No |
ClinGen gnomAD |
|
|
rs1313457895 CA408164922 |
457 | R>H | No |
ClinGen gnomAD |
|
|
CA408164925 rs1359327560 |
457 | R>S | No |
ClinGen gnomAD |
|
|
rs543448650 CA311120582 |
458 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9752925 rs752823469 |
460 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs766324516 CA9752924 |
461 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408164881 rs1299331518 |
464 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408164867 rs1384531372 |
466 | M>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9752922 rs146607903 |
466 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 467 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201605928 CA408164855 |
468 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201605928 CA9752920 |
468 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408164839 rs1568600559 |
471 | M>V | No |
ClinGen Ensembl |
|
|
rs1181365272 CA408164819 |
473 | G>A | No |
ClinGen gnomAD |
|
|
rs763892348 CA9752918 |
474 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756287628 CA9752917 |
477 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA311120551 rs756287628 |
477 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs541717561 CA311120539 |
478 | L>V | No |
ClinGen 1000Genomes |
|
|
CA408164772 COSM126213 rs1171672432 |
480 | A>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1360659631 CA408164755 |
483 | P>L | No |
ClinGen gnomAD |
|
|
rs866093806 CA311120512 |
483 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 486 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780982685 CA9752885 |
501 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242014177 CA408164596 |
506 | L>R | No |
ClinGen gnomAD |
|
|
CA311120182 rs886455107 |
509 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759197177 CA311120174 |
511 | L>S | No |
ClinGen Ensembl |
|
|
rs190775085 CA311120177 |
511 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9752884 rs757334863 |
522 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM179019 CA408164483 rs1407066077 |
523 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 524 | I>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758077130 CA9752881 |
526 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1173066846 CA408164454 |
528 | L>I | No |
ClinGen gnomAD |
|
|
rs923180188 CA408164448 |
529 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA311120158 rs923180188 |
529 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408164430 rs1327987968 COSM381205 |
532 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408164424 rs1162245993 |
532 | S>R | No |
ClinGen gnomAD |
|
|
CA408164344 rs1248135922 |
543 | I>L | No |
ClinGen gnomAD |
|
|
CA408164317 rs1316818342 |
547 | D>G | No |
ClinGen gnomAD |
|
|
CA9752850 rs770025145 |
547 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA311119107 rs770025145 |
547 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs149747182 CA9752848 |
552 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9752846 rs374388860 |
553 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408164189 rs1600071008 |
566 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 569 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408164151 rs1461832385 |
572 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780695843 CA9752796 |
575 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408164004 rs780695843 |
575 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311118213 rs747911989 |
576 | P>L | No |
ClinGen Ensembl |
|
|
rs373607688 CA9752793 |
582 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373607688 CA9752792 |
582 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139545711 CA9752794 |
582 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1222566247 CA408163831 |
585 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1257247360 CA408163806 |
586 | K>N | No |
ClinGen TOPMed |
|
|
CA9752791 rs200241586 |
588 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1186344622 CA408163753 |
590 | K>Q | No |
ClinGen TOPMed |
|
|
CA408163723 rs1343229288 |
592 | N>H | No |
ClinGen gnomAD |
|
|
rs1360320813 CA408163706 |
593 | K>R | No |
ClinGen gnomAD |
|
|
rs1457888336 CA408163700 |
594 | S>P | No |
ClinGen TOPMed |
|
|
rs1600067883 CA408163693 |
595 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 596 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201154524 CA9752788 |
596 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761611509 CA408163663 |
597 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9752786 rs761611509 |
597 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379569104 CA408163614 |
599 | E>D | No |
ClinGen TOPMed |
|
|
CA408163604 rs1378819646 |
600 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774309263 CA9752785 |
600 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9752783 rs762719817 |
601 | Y>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 602 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9752781 rs769381896 |
607 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745546452 CA9752780 |
608 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242736840 CA408163445 |
609 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408163429 rs780531243 |
610 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780531243 CA9752779 |
610 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408163380 rs1568598171 |
612 | K>T | No |
ClinGen Ensembl |
|
| rs1227413414 | 613 | Y>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9752777 rs141901582 |
615 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408163322 rs1452216387 |
615 | C>S | No |
ClinGen gnomAD |
|
|
rs758896316 CA9752775 |
617 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA311118166 rs936125458 |
619 | L>F | No |
ClinGen Ensembl |
|
|
rs1484409642 CA408163212 |
624 | T>S | No |
ClinGen TOPMed |
|
|
rs1600067732 CA408163145 |
628 | Y>C | No |
ClinGen Ensembl |
|
|
rs1257511833 CA408163126 |
629 | T>R | No |
ClinGen TOPMed |
|
|
CA9752771 rs377620793 |
631 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408163096 rs1302908197 |
632 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1302908197 CA408163095 |
632 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9752769 rs760782045 |
634 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs750524569 CA9752768 |
636 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9752766 rs762894105 |
637 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9752763 rs765051969 |
638 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs759370167 CA9752762 |
640 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195270268 CA408163044 |
640 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 642 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600067650 CA408163008 |
645 | D>A | No |
ClinGen Ensembl |
|
|
rs1277423396 CA408163003 |
646 | S>A | No |
ClinGen gnomAD |
|
|
rs776326380 CA311118147 |
647 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9752761 rs776326380 |
647 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA9752758 rs754878558 COSM1190206 |
649 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
No associated diseases with Q9UGH3
No regional properties for Q9UGH3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UGH3 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of 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. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to ethanol | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
| 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. |
| negative regulation of neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. |
| positive regulation of dendrite extension | Any process that activates or increases the frequency, rate or extent of dendrite extension. |
| response to oxidative stress | 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMGIGKNTTS | KSMEAGSSTE | GKYEDEAKHP | AFFTLPVVIN | GGATSSGEQD | NEDTELMAIY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TTENGIAEKS | SLAETLDSTG | SLDPQRSDMI | YTIEDVPPWY | LCIFLGLQHY | LTCFSGTIAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PFLLADAMCV | GYDQWATSQL | IGTIFFCVGI | TTLLQTTFGC | RLPLFQASAF | AFLAPARAIL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLDKWKCNTT | DVSVANGTAE | LLHTEHIWYP | RIREIQGAII | MSSLIEVVIG | LLGLPGALLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YIGPLTITPT | VALIGLSGFQ | AAGERAGKHW | GIAMLTIFLV | LLFSQYARNV | KFPLPIYKSK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KGWTAYKLQL | FKMFPIILAI | LVSWLLCFIF | TVTDVFPPDS | TKYGFYARTD | ARQGVLLVAP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WFKVPYPFQW | GLPTVSAAGV | IGMLSAVVAS | IIESIGDYYA | CARLSCAPPP | PIHAINRGIF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VEGLSCVLDG | IFGTGNGSTS | SSPNIGVLGI | TKVGSRRVIQ | CGAALMLALG | MIGKFSALFA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SLPDPVLGAL | FCTLFGMITA | VGLSNLQFID | LNSSRNLFVL | GFSIFFGLVL | PSYLRQNPLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TGITGIDQVL | NVLLTTAMFV | GGCVAFILDN | TIPGTPEERG | IRKWKKGVGK | GNKSLDGMES |
| 610 | 620 | 630 | 640 | ||
| YNLPFGMNII | KKYRCFSYLP | ISPTFVGYTW | KGLRKSDNSR | SSDEDSQATG |