Q6P1R4
PR
Gene name |
DUS1L |
Protein name |
tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like |
Names |
tRNA-dihydrouridine synthase 1-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64118 |
EC number |
1.3.1.88: With NAD(+) or NADP(+) as acceptor |
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 Q6P1R4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6P1R4-F1 | Predicted | AlphaFoldDB |
430 variants for Q6P1R4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA401590110 rs1461781272 |
2 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568094542 CA401590037 |
5 | Q>P | No |
ClinGen Ensembl |
|
|
rs1256335076 CA401590012 |
6 | G>A | No |
ClinGen TOPMed |
|
|
CA8850939 rs371344288 |
8 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8850937 rs769583164 |
10 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1422858071 CA401589932 |
10 | W>R | No |
ClinGen TOPMed |
|
|
CA401589889 rs1286984795 |
11 | S>G | No |
ClinGen gnomAD |
|
|
CA401589873 rs1598562142 |
11 | S>R | No |
ClinGen Ensembl |
|
|
CA8850936 rs745700439 |
12 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000903772 CA295188864 |
12 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1000903772 CA401589856 |
12 | R>L | No |
ClinGen TOPMed |
|
|
CA401589818 rs1338116270 |
15 | R>Q | No |
ClinGen gnomAD |
|
|
CA295188835 rs373764069 CA295188843 |
16 | G>R | No |
ClinGen TOPMed |
|
|
rs1358189394 CA401589786 |
17 | A>V | No |
ClinGen gnomAD |
|
|
rs1170751947 CA401589770 COSM1750420 |
18 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA295188825 rs774524387 |
19 | H>D | No |
ClinGen Ensembl |
|
|
rs534135233 CA295188816 |
20 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401589698 rs1261726577 |
22 | A>D | No |
ClinGen TOPMed |
|
|
CA401589683 rs1188415966 |
23 | P>S | No |
ClinGen gnomAD |
|
|
CA8850928 rs140623740 |
29 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754317496 CA8850929 |
29 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401589535 rs754317496 |
29 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209042944 CA401589501 |
31 | A>P | No |
ClinGen TOPMed |
|
|
rs1598561994 CA401589489 |
32 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 33 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206901040 CA401589442 |
34 | L>P | No |
ClinGen gnomAD |
|
|
CA401589430 rs1293168947 |
35 | L>P | No |
ClinGen gnomAD |
|
|
CA401589400 rs1383414924 |
37 | R>W | No |
ClinGen gnomAD |
|
|
CA8850925 rs767837055 |
40 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA401589348 rs1449783339 |
40 | G>V | No |
ClinGen gnomAD |
|
|
CA401589340 rs1400897886 |
41 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1377850138 CA401589325 |
42 | Q>H | No |
ClinGen gnomAD |
|
|
rs762067843 CA8850924 |
43 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401589285 rs1261755352 |
46 | T>A | No |
ClinGen TOPMed |
|
|
rs768742629 CA8850922 |
46 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1478139460 CA401589267 |
47 | P>L | No |
ClinGen TOPMed |
|
|
CA401589253 rs1195746397 |
48 | M>I | No |
ClinGen TOPMed |
|
|
CA401589189 rs1425729180 |
53 | V>I | No |
ClinGen gnomAD |
|
|
rs745660861 CA8850919 |
56 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs745660861 CA8850918 |
56 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1479771658 CA401589134 |
57 | D>E | No |
ClinGen gnomAD |
|
|
rs770729676 CA8850916 |
57 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777309559 CA8850914 |
58 | A>D | No |
ClinGen ExAC |
|
|
CA8850915 rs371267525 |
58 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547170654 CA8850912 |
59 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780603360 CA8850911 |
61 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401589095 rs756635689 |
61 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756635689 CA8850910 |
61 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850909 rs750979042 |
64 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767926598 CA8850908 |
66 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295188626 rs199671723 |
67 | C>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs886223396 CA295188645 |
67 | C>Y | No |
ClinGen Ensembl |
|
|
CA8850906 rs367749711 |
68 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371955260 CA8850905 COSM3958949 |
70 | C>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA401588981 rs1367858276 |
70 | C>W | No |
ClinGen gnomAD |
|
|
CA401588968 rs374490313 |
72 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401588960 CA8850903 rs771011597 |
72 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850904 rs374490313 |
72 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401588958 rs1364937136 |
73 | D>N | No |
ClinGen gnomAD |
|
|
rs765210247 CA8850902 |
74 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765210247 CA401588942 |
74 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295188606 rs930271724 |
77 | I>L | No |
ClinGen Ensembl |
|
|
CA401588901 rs1417449474 |
78 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401588900 rs1417449474 |
78 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8850901 rs759414881 |
79 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA401588784 rs1309323482 |
81 | C>Y | No |
ClinGen TOPMed |
|
|
CA295187830 rs973620721 |
83 | N>T | No |
ClinGen TOPMed |
|
|
CA8850868 rs771622282 |
84 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs747393671 CA8850867 |
85 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM107976 CA295187826 rs143290943 |
85 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM986023 CA401588695 rs1257755892 |
86 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1477538851 CA401588684 |
87 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1477538851 CA401588683 |
87 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401588690 rs1457603053 |
87 | V>M | No |
ClinGen gnomAD |
|
|
rs1373430962 CA401588665 |
89 | V>L | No |
ClinGen gnomAD |
|
|
CA401588635 rs1195145466 |
91 | A>S | No |
ClinGen gnomAD |
|
|
CA8850865 rs376709470 |
91 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779133392 CA8850863 |
92 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401588613 rs1276009334 |
93 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 94 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399262264 CA401588590 |
95 | A>G | No |
ClinGen TOPMed |
|
|
rs1399262264 CA401588589 |
95 | A>V | No |
ClinGen TOPMed |
|
|
rs753980831 CA8850861 |
96 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA401588514 rs1365077390 |
101 | A>D | No |
ClinGen gnomAD |
|
|
CA295187784 rs970210360 |
101 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA401588498 rs1400223794 |
102 | I>M | No |
ClinGen TOPMed |
|
|
CA295187772 rs1022632510 |
103 | D>H | No |
ClinGen TOPMed |
|
|
rs750389808 CA8850858 |
109 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598560221 CA401588371 |
113 | A>G | No |
ClinGen Ensembl |
|
|
CA295187728 rs370910657 |
114 | K>R | No |
ClinGen Ensembl |
|
|
CA8850856 rs761700485 |
115 | R>G | No |
ClinGen ExAC |
|
|
rs1423599314 CA401588350 |
115 | R>T | No |
ClinGen gnomAD |
|
|
CA401587576 rs1224068187 |
117 | H>R | No |
ClinGen gnomAD |
|
|
CA401587580 rs1225254758 |
117 | H>Y | No |
ClinGen gnomAD |
|
|
CA401587562 rs1320421324 |
118 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8850830 rs759114825 |
120 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850829 rs377040338 |
120 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746761309 CA295187183 |
122 | L>V | No |
ClinGen Ensembl |
|
|
rs779964065 CA295187178 |
123 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779964065 CA8850828 |
123 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1347095807 CA401587516 |
123 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8850826 rs76779621 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs780287020 CA8850823 |
126 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs749464956 CA8850824 |
126 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1434826629 CA401587489 |
127 | D>H | No |
ClinGen TOPMed |
|
|
rs1322850247 CA401587467 |
129 | L>F | No |
ClinGen gnomAD |
|
|
CA295186682 rs375155958 |
136 | A>G | No |
ClinGen ESP gnomAD |
|
|
CA401587394 rs375155958 |
136 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA401587385 CA401587386 rs759921904 |
137 | H>Q | No |
ClinGen gnomAD |
|
|
rs746891949 CA8850800 |
138 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401587367 rs1382901381 |
140 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401587365 rs1198668920 |
140 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 141 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401587360 rs1259973271 |
141 | S>F | No |
ClinGen TOPMed |
|
|
rs1304154123 CA401587356 |
142 | V>L | No |
ClinGen gnomAD |
|
|
CA8850798 rs138008936 |
143 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1387397 CA8850796 rs751958468 |
145 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA401587332 rs1388817679 |
146 | C>Y | No |
ClinGen gnomAD |
|
|
CA401587324 rs1256881134 |
147 | K>T | No |
ClinGen gnomAD |
|
|
CA8850794 rs753448203 |
148 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1445256022 CA401587314 |
148 | I>M | No |
ClinGen gnomAD |
|
|
rs532728681 CA8850793 |
149 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3403384 CA8850792 rs760210278 |
149 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752032535 CA8850791 |
152 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752032535 CA401587292 |
152 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159001719 CA401587279 |
154 | I>T | No |
ClinGen TOPMed |
|
|
CA8850787 rs770057446 |
155 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775989479 CA8850788 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747121126 CA8850783 |
158 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850782 rs777827457 |
159 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs748105874 CA8850780 |
161 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401587200 rs754755127 |
164 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs141386224 CA8850776 |
168 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8850775 rs141386224 |
168 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408922305 CA401587141 |
169 | C>Y | No |
ClinGen gnomAD |
|
|
CA8850736 rs138482688 |
173 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1351106046 CA401586994 |
174 | V>A | No |
ClinGen TOPMed |
|
|
CA401586996 rs1351106046 |
174 | V>E | No |
ClinGen TOPMed |
|
|
rs768534602 CA8850734 |
177 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749105154 CA8850733 |
177 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401586924 rs1462574566 |
180 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8850732 rs775199081 |
184 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401586874 rs775199081 |
184 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8850730 rs745472107 |
185 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8850727 rs780853019 COSM1204702 |
186 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1463175568 CA401586833 |
187 | G>D | No |
ClinGen gnomAD |
|
|
rs1203825136 CA401586823 |
188 | A>V | No |
ClinGen TOPMed |
|
|
rs201552302 CA8850724 |
189 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746547926 CA8850725 |
189 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs201552302 CA8850723 |
189 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1484292259 CA401586805 |
190 | S>F | No |
ClinGen TOPMed |
|
|
CA401586802 rs1233047434 |
191 | W>R | No |
ClinGen gnomAD |
|
|
CA401586787 rs1327501212 |
192 | E>K | No |
ClinGen gnomAD |
|
|
rs1364569186 CA401586766 |
193 | H>L | No |
ClinGen gnomAD |
|
|
rs967652067 CA295185510 |
193 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8850720 rs756581341 |
196 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA295185491 rs778657338 |
198 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs927798590 CA295185492 |
198 | R>W | No |
ClinGen gnomAD |
|
|
rs770761374 CA8850692 |
199 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8850691 rs760199428 |
200 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8850689 rs771455776 |
202 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8850687 rs368323425 |
208 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs533000686 CA8850686 |
209 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413788205 CA401586538 |
210 | N>S | No |
ClinGen gnomAD |
|
|
rs369420742 CA295185161 |
211 | I>V | No |
ClinGen Ensembl |
|
|
rs757661322 CA8850683 |
213 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs373901135 CA8850684 |
213 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373901135 CA8850685 |
213 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1405512917 CA401586461 |
216 | D>G | No |
ClinGen TOPMed |
|
|
CA8850679 rs752827924 |
217 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs765152206 CA8850678 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200226024 CA8850676 |
219 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA401586206 rs1226294775 |
219 | R>H | No |
ClinGen gnomAD |
|
|
rs760562397 CA401586188 |
222 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850674 rs760562397 |
222 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766051331 CA8850675 |
222 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772721843 CA8850673 |
223 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850672 rs559475677 |
224 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8850670 rs773933642 |
225 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA401586174 rs1324612243 |
225 | G>S | No |
ClinGen gnomAD |
|
|
CA401586168 rs1214238994 |
226 | V>M | No |
ClinGen gnomAD |
|
|
rs777224834 CA8850667 |
229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771169415 CA8850666 |
230 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401586130 rs370860304 |
231 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1193341739 CA401586132 |
231 | S>T | No |
ClinGen gnomAD |
|
|
CA8850665 rs114350519 |
232 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114350519 CA8850664 COSM1564123 |
232 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401585980 rs1228408594 |
233 | E>G | No |
ClinGen TOPMed |
|
|
CA401586124 rs1266012879 |
233 | E>Q | No |
ClinGen TOPMed |
|
|
CA8850627 rs764653880 |
236 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA401585931 rs1369190952 |
237 | H>Y | No |
ClinGen gnomAD |
|
|
rs1458427105 CA401585919 |
238 | N>H | No |
ClinGen gnomAD |
|
|
rs1256337062 CA401585884 |
240 | A>D | No |
ClinGen TOPMed |
|
|
CA295183627 rs972975745 |
240 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 240 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401585850 rs778456630 |
242 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401585846 rs1473468840 COSM708609 |
243 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA401585827 rs1248246461 |
244 | G>S | No |
ClinGen gnomAD |
|
|
rs369716083 CA8850620 |
245 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768936675 CA8850621 |
245 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177337214 CA401585780 |
247 | P>L | No |
ClinGen TOPMed |
|
|
CA8850617 rs373424071 |
247 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8850618 rs373424071 |
247 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401585774 rs1333672464 |
248 | A>T | No |
ClinGen gnomAD |
|
|
rs751458618 CA401585765 |
249 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs751458618 CA8850614 |
249 | V>G | No |
ClinGen ExAC TOPMed |
|
|
rs369359990 CA401585767 |
249 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369359990 CA8850615 |
249 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902137148 CA295183565 |
251 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs752303314 CA8850611 |
254 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291839426 CA401585713 |
255 | E>D | No |
ClinGen gnomAD |
|
|
rs750909173 CA8850609 |
259 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201410540 CA295183475 |
260 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs762164701 CA8850606 |
261 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM986021 rs768075209 CA401585671 |
261 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 262 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330062854 CA401585653 |
263 | H>P | No |
ClinGen TOPMed |
|
|
rs1330062854 CA401585652 |
263 | H>R | No |
ClinGen TOPMed |
|
|
CA401585648 rs1269432128 |
264 | P>S | No |
ClinGen gnomAD |
|
|
rs1191150218 CA401585636 |
265 | C>S | No |
ClinGen gnomAD |
|
|
CA295183432 rs529008524 |
267 | L>M | No |
ClinGen 1000Genomes |
|
|
CA8850601 rs769884511 |
267 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234485712 CA401585597 |
270 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401585601 rs1260475482 |
270 | V>I | No |
ClinGen gnomAD |
|
|
CA8850596 rs199812921 |
271 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8850597 rs372820618 |
271 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384572791 CA401585479 |
278 | W>* | No |
ClinGen gnomAD |
|
|
CA401585480 rs1433161329 |
278 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777649647 CA8850594 |
280 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778481501 CA8850592 |
281 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850591 rs778481501 |
281 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979661358 CA295183043 |
284 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761047497 CA8850563 |
286 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401585270 rs1473557225 |
289 | R>* | No |
ClinGen gnomAD |
|
|
rs766523278 CA8850560 |
289 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187619618 CA401585262 |
290 | E>K | No |
ClinGen gnomAD |
|
|
rs966674915 CA295183008 |
291 | E>* | No |
ClinGen TOPMed |
|
|
rs1032266304 CA295183006 |
291 | E>G | No |
ClinGen TOPMed |
|
|
rs760875335 CA8850559 |
293 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8850558 rs773190054 |
294 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1437814901 CA401585190 |
295 | V>L | No |
ClinGen gnomAD |
|
|
rs1290648446 CA401585159 |
297 | T>N | No |
ClinGen gnomAD |
|
|
rs1386676369 CA401585148 |
298 | L>P | No |
ClinGen TOPMed |
|
|
rs553790028 CA8850555 |
299 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748124886 CA8850556 |
299 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850554 rs768518171 |
302 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401585087 rs1434929880 |
303 | A>T | No |
ClinGen TOPMed |
|
|
CA8850553 rs748900173 |
303 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs535537390 CA8850552 |
307 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1335140548 CA401585013 |
308 | L>P | No |
ClinGen gnomAD |
|
|
rs1391780099 CA401584984 |
310 | L>V | No |
ClinGen gnomAD |
|
|
CA8850548 rs145224994 |
311 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778337057 CA8850549 |
311 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA401584937 rs1470058269 |
313 | Q>H | No |
ClinGen gnomAD |
|
|
CA401584902 rs1352217505 |
314 | E>K | No |
ClinGen TOPMed |
|
| rs1334223753 | 315 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401584891 rs1207507762 |
315 | E>K | No |
ClinGen TOPMed |
|
|
rs1289088013 CA401584873 |
317 | S>A | No |
ClinGen TOPMed |
|
|
CA295182757 rs888666543 |
318 | R>K | No |
ClinGen gnomAD |
|
|
rs1360099041 CA401584859 |
319 | Q>R | No |
ClinGen gnomAD |
|
|
rs1224495520 CA401584855 |
320 | E>K | No |
ClinGen TOPMed |
|
|
CA8850520 rs751431592 |
321 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850521 rs751431592 COSM1303531 |
321 | G>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA401584847 rs1472110052 |
321 | G>R | No |
ClinGen TOPMed |
|
|
rs938157123 CA295182702 |
322 | A>T | No |
ClinGen Ensembl |
|
|
COSM3712480 CA8850518 rs764079245 |
322 | A>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA401584820 rs1186157384 |
325 | T>I | No |
ClinGen gnomAD |
|
|
CA401584821 rs1186157384 |
325 | T>S | No |
ClinGen gnomAD |
|
|
CA8850515 rs769589629 |
326 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528019194 CA8850513 |
327 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167525263 CA401584802 |
328 | L>F | No |
ClinGen Ensembl |
|
|
rs770313065 CA8850512 |
329 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8850509 rs769222094 |
330 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8850510 rs769222094 |
330 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1213624948 CA401584786 |
331 | H>R | No |
ClinGen gnomAD |
|
|
CA8850508 rs749829369 |
331 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1295478641 CA401584779 |
332 | W>* | No |
ClinGen gnomAD |
|
|
rs756577680 CA401584752 |
335 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA401584741 rs1463537898 |
337 | Y>S | No |
ClinGen gnomAD |
|
|
CA401584735 rs1169908435 |
338 | I>L | No |
ClinGen gnomAD |
|
|
rs1337107897 CA401584733 |
338 | I>T | No |
ClinGen TOPMed |
|
|
rs751726069 CA8850501 |
339 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850502 rs757272917 |
339 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs148640822 CA8850500 |
340 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357047041 CA401584726 |
340 | P>S | No |
ClinGen TOPMed |
|
|
CA401584719 rs1598552870 |
341 | G>R | No |
ClinGen Ensembl |
|
|
CA295181595 rs920503975 |
342 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8850475 rs766102627 |
343 | R>G | No |
ClinGen ExAC |
|
|
CA401584695 rs1289183053 |
343 | R>T | No |
ClinGen gnomAD |
|
|
CA8850472 rs143848672 |
345 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401584676 rs1568085734 |
346 | S>C | No |
ClinGen Ensembl |
|
|
CA8850470 rs767108829 |
346 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs761461277 CA401584664 |
347 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1396353505 CA401584663 |
348 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776131195 CA8850467 |
350 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746363915 CA8850465 |
351 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746363915 CA401584624 |
351 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295181533 rs746363915 |
351 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776993833 CA8850464 |
352 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs201400745 CA8850463 |
352 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8850461 rs769318809 |
353 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs142404033 CA8850460 |
353 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142404033 CA401584604 |
353 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8850459 rs748284715 |
354 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA401584590 rs1298001771 |
354 | S>R | No |
ClinGen gnomAD |
|
|
rs138475537 CA8850458 |
356 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA401584568 rs1318795565 |
356 | R>W | No |
ClinGen gnomAD |
|
|
rs1568085564 CA401584478 |
361 | E>D | No |
ClinGen Ensembl |
|
|
rs753743821 CA401584464 |
362 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779859983 CA8850454 |
362 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753743821 CA8850455 |
362 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401584473 rs1377248973 |
362 | E>K | No |
ClinGen gnomAD |
|
|
rs756014147 CA8850453 |
363 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs960921619 CA295181360 |
364 | G>D | No |
ClinGen TOPMed |
|
|
CA8850451 rs73999366 |
364 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111336032 CA401584419 |
365 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111336032 CA8850449 |
365 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs980952219 CA295181334 |
366 | E>D | No |
ClinGen TOPMed |
|
|
CA401584415 rs1249952008 COSM1303529 |
366 | E>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA295181333 rs1025004616 |
367 | V>F | No |
ClinGen TOPMed |
|
|
rs1598551153 CA401584382 |
367 | V>G | No |
ClinGen Ensembl |
|
|
CA8850446 rs777031875 |
369 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1180549991 CA401584346 |
370 | K>E | No |
ClinGen gnomAD |
|
|
CA8850445 rs771292542 |
372 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992405819 CA295181270 |
373 | Q>K | No |
ClinGen Ensembl |
|
|
CA401584272 rs1386353806 |
374 | K>R | No |
ClinGen TOPMed |
|
|
rs151063790 CA8850444 |
375 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1415191097 CA401584204 |
377 | L>Q | No |
ClinGen gnomAD |
|
|
rs143653555 CA8850443 |
377 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8850441 rs748372732 |
378 | R>M | No |
ClinGen ExAC |
|
|
rs779909564 CA8850437 |
380 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779909564 CA8850438 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850439 rs768651289 |
380 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA401584153 rs750313556 CA8850435 |
381 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314320139 CA401584149 |
382 | K>E | No |
ClinGen TOPMed |
|
|
rs112527177 CA295181165 |
384 | F>L | No |
ClinGen Ensembl |
|
|
rs1372168943 CA401584116 |
384 | F>S | No |
ClinGen gnomAD |
|
|
CA401584105 rs1476394676 |
385 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1338443264 CA401584080 |
386 | P>L | No |
ClinGen TOPMed |
|
|
rs530491799 CA8850432 |
386 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550338959 CA8850431 |
387 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA295179401 rs373366357 |
390 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8850428 rs766852189 |
390 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770012885 CA8850399 |
391 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA295179398 rs771442630 |
392 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA401582471 rs1323137769 |
393 | A>G | No |
ClinGen TOPMed |
|
|
CA295179369 rs942040716 |
395 | C>* | No |
ClinGen TOPMed |
|
|
CA8850395 rs770823323 |
395 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs777477372 CA8850393 |
396 | D>A | No |
ClinGen ExAC |
|
|
CA401582437 rs1358413359 |
396 | D>N | No |
ClinGen gnomAD |
|
|
CA8850394 rs777477372 |
396 | D>V | No |
ClinGen ExAC |
|
|
CA8850391 rs371117778 COSM1740406 |
398 | C>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs376200459 CA8850390 |
402 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477054755 CA401582171 |
403 | G>S | No |
ClinGen gnomAD |
|
|
rs372912714 CA8850292 |
405 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486965805 CA401582131 |
405 | R>K | No |
ClinGen gnomAD |
|
|
rs1180019576 CA401582124 |
406 | C>S | No |
ClinGen gnomAD |
|
|
CA401582091 rs1199962427 |
408 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1199962427 CA401582095 |
408 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs760319739 CA8850291 |
409 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850288 rs368733115 |
412 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1260620411 CA401582032 |
412 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8850286 rs539331883 |
413 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8850284 rs781445339 |
417 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8850285 rs145282065 |
417 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8850283 rs770981128 |
418 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295178359 rs376659580 |
418 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8850282 rs376659580 |
418 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401581983 rs1299513755 |
419 | A>T | No |
ClinGen gnomAD |
|
|
rs777832090 CA8850281 |
421 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
CA8850280 rs758294938 |
422 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA401581898 rs752597705 |
426 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1474455893 CA401581878 |
428 | G>R | No |
ClinGen Ensembl |
|
|
rs766750212 CA8850247 |
430 | G>E | No |
ClinGen ExAC |
|
|
rs144652762 CA8850248 |
430 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329703014 CA401581713 |
431 | L>S | No |
ClinGen gnomAD |
|
|
CA401581702 rs1401772400 |
432 | L>I | No |
ClinGen gnomAD |
|
|
CA295178021 rs149720351 |
436 | K>E | No |
ClinGen ESP |
|
|
CA8850244 rs540579368 |
438 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748234220 CA401581491 |
441 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262076430 CA401581470 |
442 | A>S | No |
ClinGen TOPMed |
|
|
CA401581466 rs1477186199 |
442 | A>V | No |
ClinGen gnomAD |
|
|
CA401581430 rs1197937087 |
443 | W>* | No |
ClinGen gnomAD |
|
|
rs774494600 CA8850242 |
443 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8850241 rs768420377 |
445 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs528262758 CA295177991 |
445 | E>K | No |
ClinGen Ensembl |
|
|
rs1487241153 CA401581347 |
447 | Q>H | No |
ClinGen TOPMed |
|
|
CA401581333 rs1284920605 |
448 | P>H | No |
ClinGen gnomAD |
|
|
rs1208720227 CA401581318 |
450 | L>M | No |
ClinGen TOPMed |
|
|
CA401581273 rs749261686 CA8850240 |
452 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA401581288 rs1352308995 |
452 | E>K | No |
ClinGen gnomAD |
|
|
CA401581264 rs1568081105 |
454 | Q>K | No |
ClinGen Ensembl |
|
|
rs745496709 CA8850237 |
455 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745496709 CA8850238 |
455 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs554986291 CA8850235 |
456 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8850236 rs573299242 |
456 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401581156 rs554986291 |
456 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598541829 CA401581133 |
457 | A>G | No |
ClinGen Ensembl |
|
|
rs750963615 CA8850234 |
457 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8850232 rs755426081 |
458 | P>A | No |
ClinGen ExAC |
|
|
rs754372101 CA401581067 |
459 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342872090 CA401581095 |
459 | G>R | No |
ClinGen gnomAD |
|
|
CA8850231 rs754372101 |
459 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113065692 CA295177943 |
460 | T>I | No |
ClinGen Ensembl |
|
|
CA8850229 rs766697146 |
462 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401580986 rs1178391348 |
463 | G>D | No |
ClinGen gnomAD |
|
|
CA401580993 rs139515056 |
463 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139515056 CA8850228 |
463 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8850225 rs762109016 |
466 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8850226 rs201471750 |
466 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8850223 rs768814123 |
467 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8850224 rs768814123 |
467 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA401580811 rs1400951146 |
468 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA401580810 rs1400951146 |
468 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1366905217 CA401580819 |
468 | M>V | No |
ClinGen TOPMed |
|
|
CA401580766 rs1265133058 |
469 | G>D | No |
ClinGen gnomAD |
|
|
CA401580781 rs1445224842 |
469 | G>S | No |
ClinGen TOPMed |
|
|
rs1487942912 CA401580713 |
471 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150547115 CA8850221 |
473 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1211647957 | 474 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q6P1R4
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.1.88 | With NAD(+) or NADP(+) as acceptor |
| 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 |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
| tRNA dihydrouridine synthase activity | Catalysis of the reaction: tRNA-uracil + acceptor = tRNA-dihydrouridine + reduced acceptor. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| tRNA dihydrouridine synthesis | The process whereby a uridine in a transfer RNA is converted to dihydrouridine. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPKLQGFEFW | SRTLRGARHV | VAPMVDQSEL | AWRLLSRRHG | AQLCYTPMLH | AQVFVRDANY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKENLYCEVC | PEDRPLIVQF | CANDPEVFVQ | AALLAQDYCD | AIDLNLGCPQ | MIAKRGHYGA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLQDEWDLLQ | RMILLAHEKL | SVPVTCKIRV | FPEIDKTVRY | AQMLEKAGCQ | LLTVHGRTKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKGPLSGAAS | WEHIKAVRKA | VAIPVFANGN | IQCLQDVERC | LRDTGVQGVM | SAEGNLHNPA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LFEGRSPAVW | ELAEEYLDIV | REHPCPLSYV | RAHLFKLWHH | TLQVHQELRE | ELAKVKTLEG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IAAVSQELKL | RCQEEISRQE | GAKPTGDLPF | HWICQPYIRP | GPREGSKEKA | GARSKRALEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EEGGTEVLSK | NKQKKQLRNP | HKTFDPSLKP | KYAKCDQCGN | PKGNRCVFSL | CRGCCKKRAS |
| 430 | 440 | 450 | 460 | 470 | |
| KETADCPGHG | LLFKTKLEKS | LAWKEAQPEL | QEPQPAAPGT | PGGFSEVMGS | ALA |