Q9NV66
PR
Gene name |
TYW1 (RSAFD1) |
Protein name |
S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 |
Names |
Radical S-adenosyl methionine and flavodoxin domain-containing protein 1, tRNA wybutosine-synthesizing protein 1 homolog, tRNA-yW-synthesizing protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55253 |
EC number |
4.1.3.44: Oxo-acid-lyases |
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 Q9NV66
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NV66-F1 | Predicted | AlphaFoldDB |
466 variants for Q9NV66
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4279335 rs781400833 |
2 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755407198 CA4279334 |
2 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA159928948 rs879117677 |
2 | D>H | No |
ClinGen Ensembl |
|
|
rs1327519800 CA367656695 |
3 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367656692 rs1327519800 |
3 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367656708 rs1230092470 |
4 | S>F | No |
ClinGen gnomAD |
|
|
CA4279337 rs756796485 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279339 rs745334530 |
7 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367656784 rs1202838622 |
9 | D>V | No |
ClinGen gnomAD |
|
|
rs775447191 CA4279342 |
13 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA367656860 rs1324843017 |
14 | L>F | No |
ClinGen TOPMed |
|
|
CA4279344 rs746897624 |
15 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA159929748 rs149236045 |
20 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs768552935 CA4279345 |
22 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367656962 rs1584444087 |
22 | F>V | No |
ClinGen Ensembl |
|
|
rs776284490 CA4279346 |
23 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1384384171 CA367656990 |
24 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367657112 rs1562958343 |
33 | S>G | No |
ClinGen Ensembl |
|
|
rs143503747 CA4279350 |
34 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143503747 CA4279351 |
34 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279352 rs752170861 |
37 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA367657223 rs1562958354 |
40 | I>T | No |
ClinGen Ensembl |
|
|
CA4279353 rs147995512 |
44 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147995512 CA367657277 |
44 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1255282117 CA367657293 |
45 | Q>P | No |
ClinGen gnomAD |
|
|
CA367657384 rs1171772700 |
47 | K>R | No |
ClinGen gnomAD |
|
|
CA4279375 rs753138008 |
50 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764421142 CA4279377 |
51 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs750133165 CA4279378 |
53 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758041786 CA4279379 |
55 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367657493 rs758041786 |
55 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367657485 rs1362163392 |
55 | P>T | No |
ClinGen TOPMed |
|
|
rs779541864 CA4279380 |
58 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs779541864 CA367657535 |
58 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1584444963 CA367657541 |
59 | Q>E | No |
ClinGen Ensembl |
|
|
rs1397468698 CA367657555 |
60 | D>H | No |
ClinGen TOPMed |
|
|
rs754961909 CA4279382 |
62 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279381 rs750975105 |
62 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4279383 rs780948275 |
63 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279384 rs748083874 |
65 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280605971 CA367657643 |
66 | Y>C | No |
ClinGen gnomAD |
|
|
CA4279385 rs557115043 |
67 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367657652 rs557115043 |
67 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA159930204 rs1012499551 |
68 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 68 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796185742 CA159930211 |
69 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4279387 rs749527876 |
70 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367657689 rs749527876 |
70 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231794324 CA367657716 |
72 | K>E | No |
ClinGen TOPMed |
|
|
CA4279388 rs771223895 |
72 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774515203 CA4279389 |
73 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA367657774 rs1193476318 |
76 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA367657805 rs1409818645 |
78 | G>E | No |
ClinGen gnomAD |
|
|
rs1383134130 CA367657816 |
79 | V>E | No |
ClinGen TOPMed |
|
|
CA4279393 rs761158619 |
80 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435486938 CA367657830 |
80 | K>T | No |
ClinGen TOPMed |
|
|
rs764507325 CA4279394 |
83 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs952169120 | 83 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4279396 rs542889524 |
84 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4279395 rs142997494 |
84 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279399 rs41308862 |
86 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4279400 rs754483179 |
87 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780728016 CA4279402 |
89 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA159930295 rs371534181 |
90 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371534181 CA4279403 |
90 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279405 rs777727038 |
91 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367658909 rs1584457783 |
93 | F>C | No |
ClinGen Ensembl |
|
|
rs376806090 CA159938936 |
93 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1091365 CA4279429 rs201171310 |
94 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1412705178 CA367658950 |
97 | L>V | No |
ClinGen gnomAD |
|
|
rs1199580225 CA367658962 |
98 | A>V | No |
ClinGen TOPMed |
|
|
CA367658978 rs1311982611 |
100 | A>T | No |
ClinGen gnomAD |
|
|
CA4279431 rs761514960 |
101 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279432 rs370065083 |
102 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777159797 CA4279433 |
103 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4279434 COSM453308 rs748628175 |
103 | S>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1320784255 CA367659067 |
107 | P>R | No |
ClinGen Ensembl |
|
|
CA159939026 rs977031174 |
108 | V>M | No |
ClinGen TOPMed |
|
|
rs767152007 CA4279438 |
109 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA159939049 rs372549643 |
109 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA4279439 rs775176185 |
110 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4279440 rs760305274 |
111 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4279441 rs763677059 |
113 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761807165 CA4279443 |
115 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4279442 rs200546877 |
115 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367659175 rs1382110527 |
116 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367659197 rs1562963164 |
118 | P>T | No |
ClinGen Ensembl |
|
|
rs1432729873 CA367659211 |
119 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA367659205 rs1408883099 |
119 | D>N | No |
ClinGen TOPMed |
|
|
CA367659207 rs1408883099 |
119 | D>Y | No |
ClinGen TOPMed |
|
|
rs1442538669 CA367659224 |
120 | D>G | No |
ClinGen TOPMed |
|
|
CA4279444 rs764947603 |
121 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750173188 CA4279445 |
124 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750216470 CA4279463 |
128 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs745753155 CA159941969 |
128 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 130 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368120706 CA159941973 |
131 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA159941977 rs1035539612 |
132 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA367659452 rs1035539612 |
132 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4279465 rs766136339 |
136 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA367659481 rs1466794385 |
137 | A>S | No |
ClinGen gnomAD |
|
|
COSM3950718 rs751833720 CA4279466 |
137 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 138 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367659486 rs1453209290 |
138 | T>S | No |
ClinGen gnomAD |
|
|
rs781250202 CA4279468 |
140 | T>S | No |
ClinGen ExAC |
|
|
rs778388200 CA4279472 |
142 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756613182 CA4279471 |
142 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA367659517 rs1460991091 |
143 | L>P | No |
ClinGen gnomAD |
|
|
CA4279473 rs749739896 |
143 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475619117 CA367659524 |
144 | P>L | No |
ClinGen gnomAD |
|
|
CA367659526 rs1294128350 |
145 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs370951977 CA4279475 |
146 | E>G | No |
ClinGen ESP ExAC |
|
|
rs1013011918 CA159942012 |
148 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746666917 CA4279476 |
152 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1409203295 CA367659583 |
153 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA159942017 rs139257345 |
153 | K>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 154 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341571996 CA367659597 |
154 | W>C | No |
ClinGen gnomAD |
|
|
rs1199444676 CA367659591 |
154 | W>R | No |
ClinGen TOPMed |
|
|
CA4279477 rs768368031 |
159 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA159942025 rs1027390723 |
160 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4279478 rs776026503 |
160 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279479 rs761345069 COSM337185 |
161 | D>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4279480 rs769154282 COSM421893 |
163 | R>* | urinary_tract Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA367659654 rs1203372134 |
163 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367659681 rs1488534077 |
167 | T>S | No |
ClinGen gnomAD |
|
|
rs766226559 CA4279483 |
169 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4279484 rs774063244 |
171 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774063244 CA159942043 |
171 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279486 rs149970857 |
172 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279485 rs759778969 |
172 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144311273 CA4279487 |
173 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279489 rs764068562 |
174 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs578040532 COSM4162366 CA4279488 |
174 | Y>D | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4279490 rs754435975 |
175 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395139230 CA367659733 |
176 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4279492 rs779435904 |
181 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA367659787 rs1268110755 |
184 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1584463779 CA367659796 |
185 | A>V | No |
ClinGen Ensembl |
|
|
rs1354257835 CA367659803 |
186 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259451130 CA367659820 COSM3768462 |
188 | F>L | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA367659825 rs1218548532 |
189 | N>S | No |
ClinGen gnomAD |
|
|
CA4279518 rs747897742 |
192 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755653342 CA4279519 |
195 | V>F | No |
ClinGen ExAC gnomAD |
|
|
COSM2153035 CA367659905 rs1330229831 |
198 | W>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA367659920 rs1433519053 |
200 | W>* | No |
ClinGen TOPMed |
|
|
CA367659915 rs1170472421 |
200 | W>R | No |
ClinGen TOPMed |
|
|
CA367659944 rs1301240305 |
204 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs147693115 CA4279524 |
204 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4279526 rs775081760 |
205 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188054051 CA367659950 |
205 | H>Y | No |
ClinGen TOPMed |
|
|
CA4279527 rs760966153 |
206 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148741933 CA4279529 |
206 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148741933 CA4279528 |
206 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367659979 rs1584467960 |
209 | S>N | No |
ClinGen Ensembl |
|
|
CA4279530 rs762022773 |
210 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765384722 CA4279531 |
210 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1432714787 CA367659991 |
212 | E>Q | No |
ClinGen gnomAD |
|
|
CA367660011 rs1193317781 |
214 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4279533 rs565894058 |
214 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 216 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4279536 rs755810649 |
217 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200747329 CA159944184 |
218 | V>A | No |
ClinGen Ensembl |
|
|
CA4279537 rs777334093 |
218 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs367995808 CA4279538 |
220 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466732994 CA367660049 |
220 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1349245211 CA367660068 |
223 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4279539 rs756821810 |
224 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs778395038 CA4279540 |
224 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1359679132 CA367660079 |
224 | S>R | No |
ClinGen gnomAD |
|
|
CA367660091 rs1163800909 |
226 | E>G | No |
ClinGen TOPMed |
|
|
rs531919446 CA4279543 |
228 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs531919446 CA367660101 |
228 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4279544 rs746744029 |
229 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA159944258 rs777040631 |
231 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768464894 CA4279545 |
231 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777040631 CA4279546 |
231 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279547 rs202237438 |
234 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203173926 CA367660175 |
238 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4279549 rs376332204 |
240 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763526906 CA4279550 |
242 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367660199 rs1160979599 |
242 | A>V | No |
ClinGen gnomAD |
|
|
rs199662837 CA4279551 |
244 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752077181 CA4279552 |
245 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs752077181 CA4279553 |
245 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1358478165 CA367660235 |
248 | R>G | No |
ClinGen gnomAD |
|
|
rs1298529864 CA367660247 |
249 | K>N | No |
ClinGen gnomAD |
|
|
CA4279556 rs753558424 |
250 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1284043747 CA367660278 |
254 | G>D | No |
ClinGen TOPMed |
|
|
CA159944338 rs1039718943 |
254 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749887574 CA4279559 |
255 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1282774814 CA367660300 |
257 | K>R | No |
ClinGen gnomAD |
|
|
rs1353540305 CA367660315 |
259 | G>D | No |
ClinGen gnomAD |
|
|
CA367660324 rs1288547922 |
260 | K>N | No |
ClinGen gnomAD |
|
|
rs200451351 CA159944352 |
260 | K>R | No |
ClinGen gnomAD |
|
|
rs758393672 CA4279560 |
261 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279561 rs142141313 |
264 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367660365 rs1472845963 |
266 | H>R | No |
ClinGen gnomAD |
|
|
rs1183044475 CA367660372 |
267 | G>D | No |
ClinGen gnomAD |
|
|
rs578255738 CA4279563 |
268 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA159944373 rs1000745516 |
269 | E>D | No |
ClinGen TOPMed |
|
|
COSM1451863 rs753980922 CA159944377 |
270 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA159944383 rs144533794 |
272 | E>V | No |
ClinGen ESP TOPMed |
|
|
rs781129560 CA4279564 |
274 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1562967701 CA367660426 |
275 | S>F | No |
ClinGen Ensembl |
|
|
CA159944384 rs1815061 |
276 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA367660446 rs1414405975 |
278 | Q>R | No |
ClinGen TOPMed |
|
|
rs1815060 CA367660456 |
279 | D>E | No |
ClinGen gnomAD |
|
|
CA367660454 rs1584468334 |
279 | D>G | No |
ClinGen Ensembl |
|
|
rs1359891535 CA367660465 |
280 | E>D | No |
ClinGen gnomAD |
|
|
CA4279567 rs151211596 |
282 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367660475 rs1277797924 |
282 | H>Y | No |
ClinGen gnomAD |
|
|
rs1194176420 CA367660487 |
283 | H>Q | No |
ClinGen gnomAD |
|
|
CA367660484 rs1469633565 |
283 | H>R | No |
ClinGen TOPMed |
|
|
rs1247379072 CA367660488 |
284 | R>G | No |
ClinGen TOPMed |
|
|
CA159944407 rs372125701 CA159944396 |
285 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs1815059 CA4279569 |
287 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772795428 CA4279597 |
288 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4279598 rs183361487 |
289 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4279599 rs183361487 |
289 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 290 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4279601 rs754987703 |
290 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4279603 rs767521392 |
291 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4279602 rs767521392 |
291 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324758754 CA367660860 |
291 | P>S | No |
ClinGen gnomAD |
|
|
CA367660881 rs1417546317 |
294 | S>N | No |
ClinGen TOPMed |
|
|
CA367660894 rs1439209236 |
296 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748780204 CA4279604 |
296 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4279605 rs777620659 |
297 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4279606 rs749477892 |
298 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4279608 rs778886079 |
302 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757443876 CA4279607 |
302 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs556689793 CA4279610 |
305 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780589478 CA4279611 |
306 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747498239 CA4279612 |
308 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs776983711 CA4279614 |
309 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1436664917 CA367661042 |
317 | L>F | No |
ClinGen TOPMed |
|
|
CA367661044 rs1164410756 |
318 | G>S | No |
ClinGen gnomAD |
|
|
CA367661049 rs1393428220 |
318 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367661095 rs1289976958 |
324 | V>G | No |
ClinGen TOPMed |
|
|
CA4279617 rs773764382 |
325 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367661111 rs1584476488 |
327 | E>K | No |
ClinGen Ensembl |
|
|
rs1236089856 CA367661121 |
328 | K>E | No |
ClinGen gnomAD |
|
|
CA367658262 rs1217599141 |
331 | K>E | No |
ClinGen gnomAD |
|
|
CA4279636 rs771714306 |
333 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA367658328 rs1201138620 |
339 | G>A | No |
ClinGen gnomAD |
|
|
rs1456478684 CA367658345 |
342 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760712252 CA4279638 |
342 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs764057302 CA4279639 |
342 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4279640 rs753690982 |
344 | M>R | No |
ClinGen ExAC |
|
| TCGA novel | 345 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 346 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569597363 CA159925815 |
346 | R>K | No |
ClinGen 1000Genomes |
|
|
CA367658383 rs1267518618 |
347 | N>S | No |
ClinGen TOPMed |
|
|
CA4279643 rs150294347 |
353 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367658430 rs1465270057 |
354 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA159925854 rs763040072 |
356 | I>V | No |
ClinGen Ensembl |
|
|
CA367658454 rs1318604383 |
357 | T>I | No |
ClinGen TOPMed |
|
|
rs1281928117 CA367658460 |
358 | P>R | No |
ClinGen TOPMed |
|
|
rs1407740185 CA367658464 |
359 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4279645 rs758545523 |
360 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780118091 CA4279646 |
361 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA367658474 rs137999897 |
361 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4279647 COSM340797 rs137999897 |
361 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4279648 rs755471038 |
363 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584501981 CA367658484 |
363 | A>T | No |
ClinGen Ensembl |
|
|
CA367658497 rs1298863996 |
365 | T>A | No |
ClinGen gnomAD |
|
|
CA4279649 rs781742223 |
365 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367658534 rs1221910897 |
368 | G>R | No |
ClinGen TOPMed |
|
|
CA367659325 rs1489016009 |
375 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367659326 rs1489016009 |
375 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367659334 rs1267267668 |
376 | S>L | No |
ClinGen TOPMed |
|
|
CA4279672 rs140880867 |
377 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279674 rs779904853 |
378 | V>M | No |
ClinGen ExAC |
|
|
CA367659353 rs1287718882 |
379 | K>N | No |
ClinGen TOPMed |
|
|
rs746631801 CA4279675 |
380 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA367659354 rs746631801 |
380 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA367659390 rs1352368448 |
385 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 386 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200301906 CA4279696 |
387 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780772657 CA4279698 |
389 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747567929 CA4279699 |
389 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562994342 CA367660585 |
393 | G>A | No |
ClinGen Ensembl |
|
|
CA367660607 rs1248858921 |
395 | Y>* | No |
ClinGen gnomAD |
|
|
rs185644883 CA159937849 |
397 | H>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4279702 rs749207967 |
398 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756812583 CA159937883 |
398 | T>R | No |
ClinGen TOPMed |
|
|
rs770778513 CA4279703 |
400 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA159937921 rs938687163 |
402 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367660665 rs1294813255 |
403 | E>K | No |
ClinGen TOPMed |
|
|
rs1241244047 CA367660685 |
405 | H>R | No |
ClinGen gnomAD |
|
|
CA4279704 rs377758713 |
406 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367660690 COSM117196 rs377758713 |
406 | R>G | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367660706 rs1448320456 |
408 | M>R | No |
ClinGen gnomAD |
|
|
CA4279705 rs759827997 |
408 | M>V | No |
ClinGen ExAC |
|
| TCGA novel | 410 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4279706 rs371136621 COSM223171 |
412 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367660734 rs371136621 |
412 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4279708 rs760719980 |
415 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367660754 rs760719980 |
415 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367660760 rs1378339879 |
416 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1378339879 CA367660758 |
416 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4279710 rs754465387 |
419 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs540364700 CA159938014 |
420 | C>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 425 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367660823 COSM3768464 rs1413018000 |
425 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs771881560 CA4279723 |
426 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279724 rs775636361 |
428 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367661166 rs1584539504 |
429 | N>T | No |
ClinGen Ensembl |
|
|
CA367661186 rs1331446110 |
432 | G>D | No |
ClinGen gnomAD |
|
|
rs1329780597 CA367661194 |
433 | T>S | No |
ClinGen gnomAD |
|
|
rs762429631 CA4279728 |
436 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs116676724 COSM3785753 CA4279727 |
436 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367661220 rs1194289572 |
437 | W>* | No |
ClinGen TOPMed |
|
|
rs200723928 CA4279729 |
437 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA4279730 rs750907413 |
438 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs375001767 CA4279731 |
438 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1316720158 CA367661226 |
438 | K>R | No |
ClinGen gnomAD |
|
|
rs372808876 CA4279733 |
439 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs144840432 CA4279732 |
439 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1131536 CA367661242 rs755695441 |
440 | D>E | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA367661240 rs1584539589 |
440 | D>G | No |
ClinGen Ensembl |
|
|
CA367661247 rs1197828873 |
441 | Q>R | No |
ClinGen gnomAD |
|
|
CA367661267 rs1481517523 |
444 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367661281 rs1423082517 |
445 | I>M | No |
ClinGen gnomAD |
|
|
CA367661278 rs1191755085 |
445 | I>N | No |
ClinGen gnomAD |
|
|
CA367661294 rs1487666371 |
447 | K>R | No |
ClinGen TOPMed |
|
|
rs747203555 CA4279737 |
450 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747203555 CA159949735 |
450 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279736 rs753307839 |
450 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4279739 rs778765728 |
453 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA4279738 rs778765728 |
453 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1405167595 CA367661333 |
453 | H>Y | No |
ClinGen gnomAD |
|
|
CA4279740 rs758198410 |
454 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406439418 CA367661340 |
454 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4279741 rs201557131 |
455 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4279743 rs573030738 |
456 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747251618 CA4279742 |
456 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA4279744 rs776879183 |
457 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4279745 rs748273893 |
459 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748273893 CA367661373 |
459 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4279747 rs367797361 |
459 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367797361 CA4279746 |
459 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279748 rs541460158 |
460 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs2261015 CA367661413 |
462 | G>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1292276034 CA367661392 CA367661393 |
462 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
VAR_031288 CA159960124 rs2261015 COSM4006744 |
462 | G>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes TOPMed dbSNP |
|
CA4279770 rs759942618 |
463 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM379423 rs767856569 CA4279771 |
464 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA367661430 rs1337326692 |
465 | G>V | No |
ClinGen gnomAD |
|
|
CA4279774 rs764670113 |
466 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA367661436 rs1306789933 |
467 | K>Q | No |
ClinGen TOPMed |
|
|
rs1306080001 CA367661444 |
468 | A>T | No |
ClinGen gnomAD |
|
|
rs1016237223 CA159960155 |
470 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1241521573 CA367661460 COSM1091369 |
470 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1241521573 CA367661462 |
470 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367661469 rs1254478078 |
471 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749903185 CA4279775 |
472 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279776 rs372419030 |
473 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 475 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA159960170 rs963645304 |
475 | M>T | No |
ClinGen TOPMed |
|
|
CA367661492 rs1245533032 |
475 | M>V | No |
ClinGen gnomAD |
|
|
rs141862060 CA4279777 |
476 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251752092 CA367661510 |
478 | K>Q | No |
ClinGen gnomAD |
|
|
rs1378155268 CA367661528 |
480 | C>R | No |
ClinGen TOPMed |
|
|
CA367661533 rs1160846788 |
480 | C>W | No |
ClinGen gnomAD |
|
|
CA4279779 rs754874445 |
481 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297528615 CA367661558 |
485 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 487 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367661589 rs1392845106 |
489 | I>M | No |
ClinGen gnomAD |
|
|
rs777736417 CA4279783 |
489 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749426476 CA4279784 |
490 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1434227327 CA367661593 |
490 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs569442241 CA4279785 |
491 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367661610 rs1348779728 |
492 | P>L | No |
ClinGen TOPMed |
|
|
CA367661639 rs1381547272 |
496 | R>S | No |
ClinGen gnomAD |
|
|
rs746373624 CA4279787 |
497 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367661663 rs1239102933 |
500 | L>I | No |
ClinGen TOPMed |
|
|
rs1316121626 CA367661671 |
501 | L>H | No |
ClinGen gnomAD |
|
|
rs376150361 CA4279789 |
502 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252335534 CA367661676 |
502 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4279790 rs761398625 |
504 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA367661691 rs1266371502 |
504 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367661718 rs1199672598 |
508 | S>G | No |
ClinGen gnomAD |
|
|
rs769444046 CA4279791 |
511 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4279792 rs772705532 |
512 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 513 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765972006 CA4279794 |
514 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765972006 COSM1091370 CA159960289 |
514 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA367661758 rs1463350295 |
514 | A>V | No |
ClinGen gnomAD |
|
|
rs1278171471 CA367661771 |
516 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs567892594 CA159960292 |
516 | F>V | No |
ClinGen Ensembl |
|
|
CA159960296 COSM1698712 rs866080647 |
517 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs866080647 CA367661775 |
517 | P>T | No |
ClinGen gnomAD |
|
|
CA4279796 rs759478698 |
518 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs370745036 CA4279797 |
518 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214001751 CA367661801 |
521 | R>K | No |
ClinGen gnomAD |
|
|
CA367658750 rs1347112763 |
522 | N>K | No |
ClinGen gnomAD |
|
|
rs1584582941 CA367658746 |
522 | N>T | No |
ClinGen Ensembl |
|
|
rs748981450 CA4279832 |
523 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279834 rs774028946 |
524 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4279835 rs745421574 |
525 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA159938168 rs868122653 |
525 | P>S | No |
ClinGen Ensembl |
|
|
rs775566163 CA4279837 |
527 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760464903 CA4279838 |
529 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367996136 CA4279839 |
530 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4279840 rs776243685 |
531 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA159938205 rs949573998 |
532 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 533 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367658824 rs765487649 |
535 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279842 rs765487649 |
535 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4279843 rs750619047 |
537 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367658839 rs750619047 |
537 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4279844 rs750619047 |
537 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1459043787 CA367658848 |
539 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1469436742 CA367658859 |
540 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1323580900 CA367658878 |
543 | K>E | No |
ClinGen gnomAD |
|
|
rs766362227 CA4279845 |
544 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752107984 CA4279846 |
545 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs144746147 COSM1091372 CA4279847 |
546 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781635486 CA4279848 COSM1091373 |
546 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA367658924 rs781635486 |
546 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748484051 CA4279849 |
547 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1471268998 CA367658929 |
547 | P>S | No |
ClinGen gnomAD |
|
|
rs756515992 CA4279850 |
550 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs35351372 CA159938283 |
555 | R>Q | No |
ClinGen Ensembl |
|
|
CA4279852 rs745511309 |
556 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4279854 rs779375251 |
558 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4279853 rs771617859 |
558 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4279856 rs768442698 |
559 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs879365680 CA159938322 |
560 | L>* | No |
ClinGen Ensembl |
|
|
rs1204891639 CA367659153 |
562 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4279858 rs776604356 |
565 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs761641078 CA4279859 |
566 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367659199 rs1385149865 |
566 | K>R | No |
ClinGen TOPMed |
|
| rs147474467 | 569 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754509946 | 582 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749076683 | 589 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755589026 | 601 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2690207 | 609 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 619 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1479332879 | 624 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2949097 VAR_031289 RCV000948324 |
632 | H>R | No |
ClinVar UniProt dbSNP |
|
| TCGA novel | 637 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377725137 | 640 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762930253 | 648 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_031290 rs28450001 |
671 | D>N | No |
UniProt dbSNP |
|
| rs772970557 | 674 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370624282 | 693 | A>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 695 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 711 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1268216911 | 717 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9NV66
7 regional properties for Q9NV66
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Flavodoxin-like | 80 - 93 | IPR001094-1 |
| domain | Flavodoxin-like | 133 - 144 | IPR001094-2 |
| domain | Flavodoxin-like | 171 - 181 | IPR001094-3 |
| domain | Flavodoxin-like | 196 - 215 | IPR001094-4 |
| domain | Radical SAM | 351 - 659 | IPR007197 |
| domain | Flavodoxin/nitric oxide synthase | 79 - 237 | IPR008254 |
| domain | tRNA wybutosine-synthesis | 595 - 657 | IPR013917 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.1.3.44 | Oxo-acid-lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| FMN binding | Binding to flavin mono nucleotide. Flavin mono nucleotide (FMN) is the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| metal ion binding | Binding to a metal ion. |
| tRNA-4-demethylwyosine synthase activity | Catalysis of the reaction: pyruvate + S-adenosyl-L-methionine + N1-methylguanine37 in tRNAPhe = L-methionine + 5'-deoxyadenosine + carbon dioxide + H2O + 4-demethylwyosine37 in tRNAPhe. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| wybutosine biosynthetic process | The chemical reactions and pathways resulting in the formation of wybutosine, 3H-imidazopurine-7-butanoic acid, 4,9-dihydro- alpha-[(methoxycarbonyl)amino]- 4,6-dimethyl-9-oxo- 3-beta-D-ribofuranosyl methyl ester, a modified nucleoside found in some tRNA molecules. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6NUM6 | TYW1B | S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B | Homo sapiens (Human) | PR |
| Q8BJM7 | Tyw1 | S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 | Mus musculus (Mouse) | PR |
| Q08C92 | tyw1 | S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDPSADTWDL | FSPLISLWIN | RFYIYLGFAV | SISLWICVQI | VIKTQGKNLQ | EKSVPKAAQD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LMTNGYVSLQ | EKDIFVSGVK | IFYGSQTGTA | KGFATVLAEA | VTSLDLPVAI | INLKEYDPDD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HLIEEVTSKN | VCVFLVATYT | DGLPTESAEW | FCKWLEEASI | DFRFGKTYLK | GMRYAVFGLG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NSAYASHFNK | VGKNVDKWLW | MLGAHRVMSR | GEGDCDVVKS | KHGSIEADFR | AWKTKFISQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QALQKGERKK | SCGGHCKKGK | CESHQHGSEE | REEGSHEQDE | LHHRDTEEEE | PFESSSEEEF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GGEDHQSLNS | IVDVEDLGKI | MDHVKKEKRE | KEQQEEKSGL | FRNMGRNEDG | ERRAMITPAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| REALTKQGYQ | LIGSHSGVKL | CRWTKSMLRG | RGGCYKHTFY | GIESHRCMET | TPSLACANKC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VFCWRHHTNP | VGTEWRWKMD | QPEMILKEAI | ENHQNMIKQF | KGVPGVKAER | FEEGMTVKHC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALSLVGEPIM | YPEINRFLKL | LHQCKISSFL | VTNAQFPAEI | RNLEPVTQLY | VSVDASTKDS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LKKIDRPLFK | DFWQRFLDSL | KALAVKQQRT | VYRLTLVKAW | NVDELQAYAQ | LVSLGNPDFI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EVKGVTYCGE | SSASSLTMAH | VPWHEEVVQF | VHELVDLIPE | YEIACEHEHS | NCLLIAHRKF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KIGGEWWTWI | DYNRFQELIQ | EYEDSGGSKT | FSAKDYMART | PHWALFGASE | RGFDPKDTRH |
| 730 | |||||
| QRKNKSKAIS | GC |