Q8WY07
PR
Gene name |
SLC7A3 (ATRC3, CAT3) |
Protein name |
Cationic amino acid transporter 3 |
Names |
CAT-3, CAT3, Cationic amino acid transporter y+, Solute carrier family 7 member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84889 |
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 Q8WY07
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WY07-F1 | Predicted | AlphaFoldDB |
317 variants for Q8WY07
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs149506381 COSM1124559 CA10443306 |
2 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA413622878 rs1187096481 |
2 | P>T | No |
ClinGen gnomAD |
|
|
CA413622852 rs1177269438 |
3 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10443304 rs775658540 |
7 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770215359 CA10443303 |
8 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746035000 CA10443302 |
9 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs781601746 CA10443301 |
12 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413622518 rs201520823 |
15 | R>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA10443300 rs201520823 |
15 | R>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs1420439665 CA413622504 |
16 | R>I | No |
ClinGen TOPMed |
|
|
rs564494860 CA331028033 |
16 | R>S | No |
ClinGen Ensembl |
|
|
rs373914218 CA331028031 |
17 | R>C | No |
ClinGen ESP |
|
|
COSM1124557 CA10443299 rs747139281 |
17 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1310665386 CA413622463 |
18 | T>K | No |
ClinGen gnomAD |
|
|
CA10443298 rs778009194 |
19 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA331028028 rs990542783 |
20 | E>V | No |
ClinGen Ensembl |
|
|
rs1398084260 CA413622390 |
22 | G>D | No |
ClinGen TOPMed |
|
|
rs752706379 CA10443296 |
22 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413622382 rs1307210802 |
23 | M>V | No |
ClinGen gnomAD |
|
|
CA10443294 rs754844137 |
24 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754844137 CA10443295 |
24 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413622300 rs1379699653 |
26 | T>A | No |
ClinGen TOPMed |
|
|
rs369801684 CA10443292 |
26 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760175145 CA10443291 |
27 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA413622217 rs1287357258 |
30 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 31 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3965474 CA10443290 rs749869003 |
39 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs956697533 CA331028004 |
41 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs937733126 CA331028003 |
44 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 48 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs927676818 CA331027993 |
50 | V>M | No |
ClinGen gnomAD |
|
|
rs770020399 COSM1124555 CA10443286 |
56 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10443285 rs759991868 |
58 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339995853 CA413621250 |
66 | I>T | No |
ClinGen gnomAD |
|
|
rs376521997 CA10443284 |
68 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749639737 CA10443282 |
73 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM1124551 CA413620762 rs1238407327 |
82 | L>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1569467789 CA413620696 |
85 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777954334 CA10443281 |
87 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1180314622 CA413620541 |
89 | A>V | No |
ClinGen TOPMed |
|
|
CA10443279 rs748007422 |
90 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10443280 rs772228682 |
90 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413620498 rs1273798447 |
91 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1007488880 CA331027964 |
92 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA331027968 rs868644826 |
92 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10443277 rs371947710 |
93 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413620452 rs371947710 |
93 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10443276 rs368079498 |
93 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10443274 rs748594776 |
104 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413620131 rs1282127523 |
105 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1422618463 CA413620076 |
108 | L>F | No |
ClinGen gnomAD |
|
|
CA413620068 rs1310801155 |
108 | L>P | No |
ClinGen TOPMed |
|
|
CA413619994 rs1350954828 |
112 | T>I | No |
ClinGen TOPMed |
|
|
rs1223687678 CA413619977 |
113 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 115 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413619907 rs1280014330 |
116 | N>S | No |
ClinGen TOPMed |
|
|
CA413619870 rs1444659564 |
118 | I>V | No |
ClinGen TOPMed |
|
|
CA413619843 rs1350685513 |
119 | L>F | No |
ClinGen gnomAD |
|
|
rs766971440 CA10443272 |
121 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443258 rs779775363 |
130 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481571807 CA413619489 |
133 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA413619476 rs1258553761 |
134 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197945131 CA413619352 |
142 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413619303 rs1315776186 |
144 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10443257 rs755932893 |
145 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750044913 CA10443256 |
147 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413619259 rs1330204952 |
147 | T>S | No |
ClinGen gnomAD |
|
|
rs1184135764 CA413619219 |
150 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756706577 CA10443254 |
152 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs371549979 CA10443255 |
152 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10443253 rs751143090 |
153 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146198410 CA10443252 |
154 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413619143 rs1602237767 |
155 | H>P | No |
ClinGen Ensembl |
|
|
CA10443251 rs755466729 |
156 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs754430943 CA10443250 |
158 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA413619078 rs1441556659 |
159 | V>F | No |
ClinGen gnomAD |
|
|
rs761174170 CA10443248 |
160 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1005550092 CA413619046 |
161 | A>E | No |
ClinGen gnomAD |
|
|
rs1005550092 CA331027422 |
161 | A>V | No |
ClinGen gnomAD |
|
|
rs765980877 CA331027421 |
164 | P>T | No |
ClinGen gnomAD |
|
|
CA10443246 rs767849476 |
168 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1253817656 CA413618908 |
169 | L>F | No |
ClinGen gnomAD |
|
|
CA413618905 rs1240763437 |
170 | G>S | No |
ClinGen gnomAD |
|
|
CA413618894 CA331027384 rs368607994 |
172 | V>L | No |
ClinGen ESP gnomAD |
|
|
rs1434249732 CA413618874 |
175 | L>P | No |
ClinGen TOPMed |
|
|
rs1178917019 CA413617658 |
176 | T>I | No |
ClinGen TOPMed |
|
|
CA10443230 rs370745589 |
180 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA331027191 rs988612590 |
182 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs767788043 CA10443229 |
182 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769312089 CA10443228 |
184 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201201835 CA331027185 |
186 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201201835 CA10443227 |
186 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413617322 rs1366468469 |
188 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413617255 rs1602237537 |
191 | K>E | No |
ClinGen Ensembl |
|
|
CA331027182 rs17853219 |
191 | K>R | No |
ClinGen gnomAD |
|
|
CA10443225 rs372876920 |
192 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413617120 rs1218071643 |
196 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 196 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971922392 CA331027152 |
196 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 200 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413616968 rs1322993820 |
203 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10443221 rs776425784 |
204 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443222 rs776425784 |
204 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413616922 rs1425790363 |
205 | M>V | No |
ClinGen TOPMed |
|
|
rs984138645 CA331027135 |
207 | S>C | No |
ClinGen Ensembl |
|
|
rs746647037 CA10443219 |
209 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443218 rs774144802 |
210 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747729355 CA10443216 |
214 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443214 COSM3406552 rs756632457 |
218 | K>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs201472740 CA331027052 |
219 | L>P | No |
ClinGen Ensembl |
|
|
CA331027046 rs976048881 |
220 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA413616593 rs1246756645 |
222 | E>D | No |
ClinGen gnomAD |
|
|
rs1489436679 CA413616606 COSM1491203 |
222 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1478826481 CA413616597 |
222 | E>V | No |
ClinGen gnomAD |
|
|
rs1244890739 CA413616566 |
224 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 224 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10443211 rs757601279 |
226 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443209 rs77465918 |
232 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs77465918 CA331027043 |
232 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA10443208 rs372494167 |
233 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940498622 CA331026904 |
237 | L>F | No |
ClinGen Ensembl |
|
|
CA10443199 rs375791608 |
238 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10443196 rs746354876 |
249 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1345761620 CA413616121 |
251 | E>G | No |
ClinGen gnomAD |
|
|
CA10443194 rs757626640 |
251 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 252 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413616050 rs1242715307 |
253 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778112978 CA10443192 |
254 | L>I | No |
ClinGen ExAC |
|
|
rs749101493 CA10443190 |
255 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1266043 CA10443189 rs765272847 |
255 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA331026827 rs759588234 |
257 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443188 rs759588234 |
257 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443186 rs766296825 |
258 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1381595486 CA413615930 |
259 | T>N | No |
ClinGen gnomAD |
|
|
CA331026815 rs984232381 |
261 | F>L | No |
ClinGen Ensembl |
|
|
rs773086665 CA10443184 |
265 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761518003 CA10443182 |
273 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10443169 rs779168327 |
275 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 278 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 278 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413615231 rs1217645907 |
280 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1269463543 CA413615221 |
281 | Q>H | No |
ClinGen TOPMed |
|
|
rs956841977 CA331026706 |
282 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs143349209 CA10443167 |
282 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755958533 COSM1124543 CA10443165 |
285 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 286 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342156193 CA413615105 |
286 | M>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342156193 CA413615103 |
286 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1399046531 CA413615046 |
288 | I>T | No |
ClinGen gnomAD |
|
|
rs1459882610 CA413614908 |
298 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413614903 rs1403696554 |
299 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762667204 CA10443159 |
309 | M>V | No |
ClinGen ExAC |
|
|
rs769366295 CA10443157 |
314 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs747471464 CA10443156 |
315 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773761163 CA10443155 |
315 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249355870 COSM1469105 CA413614773 |
318 | E>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs377610656 CA331026638 |
319 | S>C | No |
ClinGen Ensembl |
|
|
CA413614769 rs1259717543 |
319 | S>N | No |
ClinGen gnomAD |
|
|
CA10443154 rs145410118 |
320 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413614754 rs375940756 |
321 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413614750 rs1256198473 |
322 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264730923 CA413614714 |
327 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10443151 rs755097805 |
328 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779257975 CA10443152 |
328 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1258512933 CA413614696 |
330 | W>* | No |
ClinGen gnomAD |
|
|
CA10443150 rs749547177 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1212729020 CA413614685 |
332 | P>S | No |
ClinGen gnomAD |
|
|
CA413614669 rs1302756275 |
334 | R>C | No |
ClinGen gnomAD |
|
|
CA10443149 rs779958981 |
334 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779958981 CA413614668 |
334 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325765584 CA413614658 |
336 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 338 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866847131 CA331026603 |
338 | A>V | No |
ClinGen Ensembl |
|
|
rs1460371224 CA413614630 |
340 | G>D | No |
ClinGen gnomAD |
|
|
CA10443137 rs772504858 |
354 | F>L | No |
ClinGen ExAC |
|
|
CA413614520 rs1183862733 |
355 | P>L | No |
ClinGen TOPMed |
|
|
rs762322181 CA10443136 |
356 | M>I | No |
ClinGen ExAC gnomAD |
|
| VAR_064754 | 356 | M>K | found in a renal cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 358 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413614477 COSM355704 rs1379837733 |
362 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201744083 CA10443133 |
362 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413614448 rs1455818306 |
366 | D>N | No |
ClinGen TOPMed |
|
|
CA413614408 rs1380220296 |
371 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10443130 rs746011818 |
371 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413614402 rs746011818 |
371 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1304765031 CA413614396 |
372 | V>I | No |
ClinGen gnomAD |
|
|
CA413614335 rs1394534245 COSM3406551 |
375 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10443128 rs757200118 |
378 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443127 rs151001259 |
378 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10443124 rs752281196 |
379 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10443123 rs765009930 |
380 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs142628938 CA10443122 |
381 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10443121 rs374563735 COSM1469104 |
381 | R>H | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374563735 CA413614230 |
381 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139260937 CA331026424 |
384 | I>V | No |
ClinGen ESP |
|
|
CA10443119 rs762268790 |
388 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA413614018 rs1468577846 |
397 | M>I | No |
ClinGen gnomAD |
|
|
rs1369958645 CA413613994 |
399 | F>Y | No |
ClinGen gnomAD |
|
|
rs1375667137 CA413613879 |
404 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141687407 CA10443101 |
412 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765845635 CA10443102 |
412 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs981645195 CA331026252 |
416 | L>H | No |
ClinGen TOPMed |
|
|
CA413613576 rs1320956802 |
419 | S>A | No |
ClinGen TOPMed |
|
|
CA10443100 rs200706408 |
420 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10443099 rs764727667 |
422 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1355237266 CA413613461 |
424 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 426 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs997611682 | 428 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413613240 rs1001329802 |
432 | P>H | No |
ClinGen gnomAD |
|
|
rs1001329802 CA331026180 |
432 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 435 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10443090 rs771991925 |
435 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413613137 rs1214883989 |
439 | G>E | No |
ClinGen gnomAD |
|
|
CA10443088 rs755844817 |
440 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866181378 CA331026159 |
446 | E>Q | No |
ClinGen Ensembl |
|
|
CA413613020 rs1271709255 |
448 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10443087 rs754807945 |
451 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 458 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748918741 CA10443086 |
460 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755574265 CA10443084 |
463 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 464 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413612788 rs1332921662 |
464 | P>S | No |
ClinGen gnomAD |
|
|
CA413612765 rs1391984811 |
467 | S>F | No |
ClinGen gnomAD |
|
|
CA10443081 rs758886852 |
468 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1224532042 CA413612751 |
470 | T>A | No |
ClinGen TOPMed |
|
|
rs949487616 CA331026116 |
470 | T>I | No |
ClinGen Ensembl |
|
|
rs766677040 CA331026103 |
471 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413612617 rs1250324994 |
477 | V>I | No |
ClinGen TOPMed |
|
|
rs755771269 CA331026092 |
478 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 482 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 490 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 490 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866104948 CA331026007 |
492 | C>F | No |
ClinGen Ensembl |
|
|
CA413612310 rs755732942 |
494 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755732942 CA10443067 |
494 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA331026000 rs896556505 |
495 | L>P | No |
ClinGen Ensembl |
|
|
CA413612269 rs1326396433 |
500 | V>A | No |
ClinGen gnomAD |
|
|
CA10443066 rs745528774 |
501 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413612261 rs1166641163 |
502 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780709311 CA10443065 |
503 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA413612233 rs1454221742 |
506 | D>V | No |
ClinGen gnomAD |
|
|
CA10443064 rs6525447 VAR_048154 |
508 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753230802 CA10443063 |
512 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331025890 rs916114011 |
519 | L>F | No |
ClinGen TOPMed |
|
|
CA331025882 rs865857295 |
520 | I>S | No |
ClinGen TOPMed |
|
|
rs865857295 CA413612152 |
520 | I>T | No |
ClinGen TOPMed |
|
|
rs1346785186 CA413612146 |
521 | I>T | No |
ClinGen TOPMed |
|
|
rs1281122476 CA413612143 |
522 | G>R | No |
ClinGen gnomAD |
|
|
CA10443059 rs766875762 |
524 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369829723 CA10443060 |
524 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA331025864 rs1043929675 |
525 | V>A | No |
ClinGen gnomAD |
|
|
CA413612124 rs1311301135 |
525 | V>L | No |
ClinGen gnomAD |
|
|
rs1372301985 CA413612119 |
526 | V>I | No |
ClinGen gnomAD |
|
|
rs760915001 CA10443058 |
528 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443057 rs750652204 |
529 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10443056 rs767613894 |
530 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs761858509 CA10443055 |
533 | S>C | No |
ClinGen ExAC |
|
|
rs1432261630 CA413612061 |
534 | S>Y | No |
ClinGen gnomAD |
|
|
CA413612056 rs1361925637 |
535 | T>N | No |
ClinGen gnomAD |
|
|
rs1420248391 CA413612048 |
536 | P>L | No |
ClinGen gnomAD |
|
|
rs1160933947 CA413612051 |
536 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1160933947 CA413612053 |
536 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA331025844 rs868567946 |
537 | L>I | No |
ClinGen Ensembl |
|
|
rs1569467263 CA413612043 |
537 | L>R | No |
ClinGen Ensembl |
|
|
rs866801848 CA331025607 |
543 | A>V | No |
ClinGen Ensembl |
|
|
rs755496859 CA10443043 |
547 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10443042 rs754432563 |
550 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10443040 rs756486258 |
556 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157573190 CA413611295 |
559 | M>T | No |
ClinGen gnomAD |
|
|
CA10443039 rs750645896 |
559 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs767700573 CA10443038 |
560 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA331025574 rs994721240 |
563 | T>A | No |
ClinGen TOPMed |
|
|
CA413611104 rs1187452073 |
568 | A>V | No |
ClinGen gnomAD |
|
|
rs375256830 CA331025555 |
569 | R>* | No |
ClinGen ESP TOPMed |
|
|
CA10443037 rs762025225 |
569 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 572 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10443035 rs768510091 |
574 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171413071 CA413610838 |
580 | I>M | No |
ClinGen gnomAD |
|
|
rs201510794 CA413610809 |
582 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191422299 CA413610729 |
587 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10443018 rs149447856 |
589 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000995941 CA10443017 rs149447856 |
589 | S>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 591 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331025401 rs1040548838 |
593 | I>S | No |
ClinGen Ensembl |
|
|
rs185505099 CA10443016 |
595 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368524198 TCGA novel CA10443015 |
596 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA331025384 rs759970627 |
597 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA413610567 rs1433205240 |
599 | S>L | No |
ClinGen TOPMed |
|
|
COSM1124531 rs138954830 CA10443014 |
600 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147665669 COSM78531 CA10443013 |
600 | R>H | ovary endometrium haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766232079 CA10443011 |
607 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 610 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372449309 COSM1226577 CA413610404 |
612 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs371854122 CA331025304 |
613 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA331025298 rs924886149 |
615 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA331025286 rs930362776 |
616 | V>A | No |
ClinGen Ensembl |
|
|
CA10443009 rs773048078 |
616 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA413610339 rs1447181189 |
617 | H>R | No |
ClinGen TOPMed |
|
|
rs771695858 CA10443008 |
617 | H>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8WY07
1 regional properties for Q8WY07
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cationic amino acid transporter, C-terminal | 539 - 589 | IPR029485 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid transmembrane transporter activity | Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. |
| L-arginine transmembrane transporter activity | Enables the transfer of L-arginine from one side of a membrane to the other. |
| L-lysine transmembrane transporter activity | Enables the transfer of L-lysine from one side of a membrane to the other. L-lysine is 2,6-diaminohexanoic acid. |
| L-ornithine transmembrane transporter activity | Enables the transfer of L-ornithine from one side of a membrane to the other. L-ornithine is 2,5-diaminopentanoic acid. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid transport | The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| L-arginine import across plasma membrane | The directed movement of L-arginine from outside of a cell, across the plasma membrane and into the cytosol. |
| L-lysine import across plasma membrane | The directed movement of L-lysine from outside of a cell, across the plasma membrane and into the cytosol. |
| L-ornithine import across plasma membrane | The directed movement of L-ornithine from outside of a cell, across the plasma membrane and into the cytosol. |
| L-ornithine transmembrane transport | The directed movement of L-ornithine across a membrane. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P30825 | SLC7A1 | High affinity cationic amino acid transporter 1 | Homo sapiens (Human) | PR |
| Q09143 | Slc7a1 | High affinity cationic amino acid transporter 1 | Mus musculus (Mouse) | PR |
| P70423 | Slc7a3 | Cationic amino acid transporter 3 | Mus musculus (Mouse) | PR |
| P30823 | Slc7a1 | High affinity cationic amino acid transporter 1 | Rattus norvegicus (Rat) | PR |
| O08812 | Slc7a3 | Cationic amino acid transporter 3 | Rattus norvegicus (Rat) | PR |
| Q84MA5 | CAT1 | Cationic amino acid transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LZ20 | CAT6 | Cationic amino acid transporter 6, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5PR34 | slc7a2 | Cationic amino acid transporter 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPWQAFRRFG | QKLVRRRTLE | SGMAETRLAR | CLSTLDLVAL | GVGSTLGAGV | YVLAGEVAKD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAGPSIVICF | LVAALSSVLA | GLCYAEFGAR | VPRSGSAYLY | SYVTVGELWA | FTTGWNLILS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YVIGTASVAR | AWSSAFDNLI | GNHISKTLQG | SIALHVPHVL | AEYPDFFALG | LVLLLTGLLA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGASESALVT | KVFTGVNLLV | LGFVMISGFV | KGDVHNWKLT | EEDYELAMAE | LNDTYSLGPL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GSGGFVPFGF | EGILRGAATC | FYAFVGFDCI | ATTGEEAQNP | QRSIPMGIVI | SLSVCFLAYF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AVSSALTLMM | PYYQLQPESP | LPEAFLYIGW | APARYVVAVG | SLCALSTSLL | GSMFPMPRVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YAMAEDGLLF | RVLARIHTGT | RTPIIATVVS | GIIAAFMAFL | FKLTDLVDLM | SIGTLLAYSL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSICVLILRY | QPDQETKTGE | EVELQEEAIT | TESEKLTLWG | LFFPLNSIPT | PLSGQIVYVC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SSLLAVLLTA | LCLVLAQWSV | PLLSGDLLWT | AVVVLLLLLI | IGIIVVIWRQ | PQSSTPLHFK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VPALPLLPLM | SIFVNIYLMM | QMTAGTWARF | GVWMLIGFAI | YFGYGIQHSL | EEIKSNQPSR |
| 610 | |||||
| KSRAKTVDLD | PGTLYVHSV |