P51854
Gene name |
TKTL1 (TKR, TKT2) |
Protein name |
Transketolase-like protein 1 |
Names |
Transketolase 2, TK 2, Transketolase-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8277 |
EC number |
2.2.1.1: Transketolases and transaldolases |
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 P51854
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P51854-F1 | Predicted | AlphaFoldDB |
465 variants for P51854
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10559177 rs782095901 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA415143982 rs1557164188 |
3 | D>Y | No |
ClinGen gnomAD |
|
|
rs1381764870 CA415143995 |
4 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA415143994 rs1381764870 |
4 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782070940 CA10559179 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs371613816 CA10559182 |
6 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557164197 CA415144068 |
7 | R>S | No |
ClinGen gnomAD |
|
|
CA10559184 rs781885089 |
8 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000959744 CA10559185 rs147356870 |
8 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10559187 rs781822420 |
11 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs983310656 CA337272707 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781878559 CA10559190 |
12 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs782542740 CA10559191 |
13 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs782185508 CA10559193 |
14 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559192 rs782689404 |
14 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868909853 CA415144249 |
15 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA337272742 rs199619974 |
15 | R>K | No |
ClinGen TOPMed |
|
|
CA10559194 rs782328350 |
16 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415144390 rs879988731 |
17 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 17 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782217671 CA10559196 |
18 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782370876 CA415144411 |
18 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10559198 rs781999622 COSM2155310 |
18 | R>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10559197 rs782370876 |
18 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557164245 CA415144441 |
19 | G>D | No |
ClinGen gnomAD |
|
|
CA10559199 rs782146985 |
19 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557164248 CA415144447 |
20 | T>A | No |
ClinGen gnomAD |
|
|
rs1557164249 CA415144456 |
20 | T>I | No |
ClinGen gnomAD |
|
|
CA10559201 rs781918507 |
21 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1557164264 CA415144542 |
23 | V>E | No |
ClinGen gnomAD |
|
|
rs1557164262 CA415144532 |
23 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17855509 VAR_029867 CA415144577 |
24 | L>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs781854800 CA10559204 |
25 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415144585 rs1603350084 |
25 | Q>P | No |
ClinGen Ensembl |
|
|
CA415144709 rs1557164276 |
27 | M>I | No |
ClinGen gnomAD |
|
|
rs782798441 CA10559207 |
27 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782798441 CA10559206 |
27 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415144698 rs1557164272 |
27 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782736371 CA10559209 |
29 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA415144773 rs1557164281 CA415144772 |
29 | S>R | No |
ClinGen gnomAD |
|
|
CA10559210 rs781826654 |
30 | R>H | Variant assessed as Somatic; 6.254e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 33 | I>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10559211 rs782491545 |
33 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10559213 rs782259760 |
34 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782618468 CA10559212 |
34 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782538169 CA10559214 |
35 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415144934 rs782538169 |
35 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415144940 rs1391040840 |
36 | I>V | No |
ClinGen TOPMed |
|
|
CA415144964 rs1557164303 |
37 | R>G | No |
ClinGen gnomAD |
|
|
rs146955770 COSM108472 CA337272852 |
37 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA415144978 rs1603350099 |
37 | R>S | No |
ClinGen Ensembl |
|
|
CA10559216 rs146955770 |
37 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA10559217 rs782327304 |
38 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA415145029 rs1603350102 |
39 | T>A | No |
ClinGen Ensembl |
|
|
rs781972410 CA10559218 |
41 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10559219 rs142166417 |
42 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557164315 CA415145115 |
42 | T>P | No |
ClinGen gnomAD |
|
|
COSM72986 CA415145165 rs782018424 |
43 | S>N | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10559221 rs782018424 |
43 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs782172005 CA10559222 |
44 | S>A | No |
ClinGen ExAC gnomAD |
|
|
COSM216187 rs1420946321 CA415148686 |
50 | C>R | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA415148702 rs1165720668 |
50 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782170323 CA10559290 |
53 | S>C | No |
ClinGen ExAC |
|
|
rs1474870214 CA415148988 |
59 | V>A | No |
ClinGen TOPMed |
|
|
CA415149017 rs782317545 |
61 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs781944208 CA10559292 COSM1117853 |
62 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA10559293 rs782086049 |
63 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA415149133 rs1557167015 |
64 | I>V | No |
ClinGen gnomAD |
|
|
rs1557167017 CA415149174 |
65 | M>L | No |
ClinGen gnomAD |
|
|
rs781991070 CA10559295 |
68 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10559296 rs151187522 |
69 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781924988 CA337276713 |
71 | D>H | No |
ClinGen TOPMed |
|
|
rs781924988 CA415149445 |
71 | D>Y | No |
ClinGen TOPMed |
|
|
rs375925960 CA10559297 |
75 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557167029 CA415149660 |
76 | D>Y | No |
ClinGen gnomAD |
|
|
rs1439557057 CA415149820 |
80 | F>L | No |
ClinGen TOPMed |
|
|
CA415149887 rs1557167033 |
82 | L>V | No |
ClinGen gnomAD |
|
|
rs1195344511 CA415149947 |
83 | A>G | No |
ClinGen TOPMed |
|
|
rs1557167035 CA415149936 |
83 | A>S | No |
ClinGen gnomAD |
|
|
rs1557167035 CA415149928 |
83 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1345934531 CA415149976 |
84 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 87 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557167815 CA415151521 |
87 | S>W | No |
ClinGen gnomAD |
|
|
CA10559321 rs782804391 |
89 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA415151555 rs1489957294 |
89 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1038567280 CA337277892 |
92 | A>G | No |
ClinGen gnomAD |
|
|
CA415151613 rs1557167825 |
92 | A>T | No |
ClinGen gnomAD |
|
|
rs1038567280 CA415151618 |
92 | A>V | No |
ClinGen gnomAD |
|
|
CA10559322 rs781793127 |
93 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782459709 CA10559323 |
95 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA337277898 rs1049437959 |
97 | G>A | No |
ClinGen Ensembl |
|
|
rs782237883 CA10559325 COSM673984 |
97 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10559326 rs199531907 |
98 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415151792 rs1250150739 |
98 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415151814 rs1557167844 |
99 | G>A | No |
ClinGen gnomAD |
|
|
CA10559328 rs782265633 |
99 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139206883 CA10559331 |
106 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557167853 CA415152170 |
109 | T>A | No |
ClinGen gnomAD |
|
|
CA10559332 rs782339288 |
109 | T>I | No |
ClinGen ExAC |
|
|
CA415152254 rs1557167855 |
111 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415153120 rs1224448043 |
124 | M>V | No |
ClinGen TOPMed |
|
|
CA10559349 rs782226756 |
125 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782371916 CA10559350 |
126 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 129 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415153380 rs1292282707 |
130 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10559351 rs782650700 |
131 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10559352 rs782280549 |
134 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559354 rs781937132 |
135 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415153561 rs1557168175 |
138 | M>V | No |
ClinGen gnomAD |
|
|
rs1557168176 CA415153600 |
139 | A>V | No |
ClinGen gnomAD |
|
|
CA415153688 rs1569550923 |
142 | S>C | No |
ClinGen Ensembl |
|
|
CA10559355 rs782085002 |
143 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337278230 rs917091206 |
144 | Y>N | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 149 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 151 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782358374 CA10559356 |
151 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_029868 CA415153929 rs17852259 |
152 | I>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs146510737 CA10559358 |
152 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415153989 rs781896350 |
154 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415153994 rs1431215331 |
155 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782722253 CA10559362 |
156 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559363 rs782795411 |
157 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559364 rs782493362 |
163 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs889347298 CA337278256 |
165 | P>A | No |
ClinGen Ensembl |
|
|
CA10559367 rs184120989 |
166 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10559369 rs782199950 |
167 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559370 rs74546727 |
168 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415154235 rs1219027733 |
168 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA415154255 rs1557168216 |
169 | C>R | No |
ClinGen gnomAD |
|
|
rs367675006 CA10559371 |
170 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782236245 CA10559372 |
171 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782388747 CA10559373 |
173 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397582869 CA415154398 |
176 | R>H | No |
ClinGen TOPMed |
|
|
rs782635972 CA10559391 |
183 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415155381 rs1465344859 |
184 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415155393 rs782452162 |
185 | Y>F | No |
ClinGen TOPMed |
|
|
rs782452162 CA337278284 |
185 | Y>S | No |
ClinGen TOPMed |
|
|
CA10559394 rs782577696 |
190 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA415155548 rs1446527811 |
192 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10559397 TCGA novel rs781977734 |
199 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA415155869 rs782244565 |
199 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244241621 CA415155962 |
202 | A>S | No |
ClinGen TOPMed |
|
|
rs1557168266 CA415156033 |
203 | S>F | No |
ClinGen gnomAD |
|
|
CA415156106 rs1214935929 CA415156110 |
206 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1353562265 CA415156271 |
212 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10559399 rs782397523 |
215 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415156573 rs1557168281 |
220 | R>L | No |
ClinGen gnomAD |
|
|
CA415156566 rs1557168281 |
220 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA415156560 rs1557168280 |
220 | R>W | No |
ClinGen gnomAD |
|
|
rs782016685 CA10559400 |
222 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782161822 CA10559401 |
224 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782024824 CA10559425 |
224 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA415157002 rs782024824 |
224 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557168570 CA415157022 |
225 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369920575 CA10559426 |
226 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557168579 CA415157087 |
227 | D>G | No |
ClinGen gnomAD |
|
|
rs143775860 CA10559427 |
227 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415157134 rs781829899 |
229 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA415157138 rs781829899 |
229 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs781829899 CA10559428 |
229 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045929125 CA337278704 |
230 | S>G | No |
ClinGen gnomAD |
|
|
CA415157149 rs1341325455 |
230 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs918916314 CA337278707 |
232 | H>Y | No |
ClinGen TOPMed |
|
|
rs782107839 CA10559429 |
233 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782766601 CA10559430 |
234 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557168587 CA415157231 |
235 | P>A | No |
ClinGen gnomAD |
|
|
CA10559431 rs781874134 |
237 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10559434 rs781791468 |
241 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781791468 CA415157459 |
241 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA415157544 rs1381676579 |
245 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1557168594 CA415157528 |
245 | I>V | No |
ClinGen gnomAD |
|
|
CA337278720 rs1048737670 |
246 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557168602 CA415157697 |
252 | I>L | No |
ClinGen gnomAD |
|
|
CA10559435 rs141938475 |
252 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415157748 rs1469272423 |
254 | T>S | No |
ClinGen TOPMed |
|
|
rs782388015 CA10559438 |
256 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559437 rs782243133 |
256 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA415157815 rs1557168610 |
257 | N>D | No |
ClinGen gnomAD |
|
|
CA415157838 rs1557168612 |
258 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 258 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782597025 CA337278723 |
260 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415158055 CA10559439 rs782663705 |
266 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559440 rs146912512 |
268 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781926826 CA10559443 |
268 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA415158085 rs781926826 |
268 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781926826 CA10559442 |
268 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA415158080 rs146912512 |
268 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146912512 CA10559441 |
268 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782370089 CA415158155 |
271 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782370089 CA10559444 |
271 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557168632 CA415158204 |
272 | I>M | No |
ClinGen gnomAD |
|
|
rs782799253 CA10559448 |
278 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557168640 CA415158297 |
278 | T>S | No |
ClinGen gnomAD |
|
|
rs781907217 CA10559449 |
280 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557168642 CA415158345 |
281 | P>S | No |
ClinGen gnomAD |
|
|
rs782123856 CA10559450 |
282 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10559451 rs372729512 |
283 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415158408 rs1243055165 |
284 | R>T | No |
ClinGen TOPMed |
|
|
rs781838385 CA10559452 |
285 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10559453 rs782494853 |
288 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782494853 CA415158495 |
288 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA415158790 rs1569550978 |
289 | I>M | No |
ClinGen Ensembl |
|
|
rs782143037 CA10559472 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA415158782 rs1557169092 |
289 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373153456 CA10559473 |
290 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337279618 rs369349507 |
290 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1160687358 CA415158801 |
291 | T>A | No |
ClinGen TOPMed |
|
|
rs1557169100 CA415158823 |
292 | R>Q | No |
ClinGen gnomAD |
|
|
rs1471869483 CA415158834 |
293 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1251792445 CA415158895 |
295 | C>G | No |
ClinGen TOPMed |
|
|
CA415158934 rs1485751070 |
296 | G>A | No |
ClinGen TOPMed |
|
|
CA10559475 rs139349276 |
296 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782724766 CA10559476 |
298 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415158969 rs782724766 |
298 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337279623 rs981926497 |
300 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10559477 rs782149533 |
303 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10559479 rs782663073 |
305 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM206647 CA415159731 rs1284644224 |
305 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA415159734 rs782663073 |
305 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782566318 CA10559481 |
306 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10559483 rs782199713 |
307 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782573359 CA10559482 |
307 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10559485 rs782811019 COSM3033807 |
310 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200876561 CA10559487 |
312 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447524488 CA415159793 |
313 | D>E | No |
ClinGen TOPMed |
|
|
CA415159789 rs1557169119 |
313 | D>G | No |
ClinGen gnomAD |
|
|
rs1557169119 CA415159786 |
313 | D>V | No |
ClinGen gnomAD |
|
|
CA415159801 rs1346036626 |
314 | G>A | No |
ClinGen TOPMed |
|
|
CA415159805 rs782041727 |
315 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559489 COSM76737 rs782041727 |
315 | D>N | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10559491 rs782710345 |
316 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10559490 rs782710345 |
316 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10559492 VAR_087456 rs111811311 |
317 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1411867582 CA415159840 CA415159839 |
317 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs983313024 CA337279648 |
318 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs983313024 CA415159842 |
318 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA415159856 rs781880487 |
319 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs781880487 CA415159863 |
319 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782771939 CA10559493 |
319 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781880487 CA10559494 |
319 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10559495 rs192663483 |
320 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147127153 CA10559496 |
320 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179635832 CA415159877 |
321 | F>L | No |
ClinGen TOPMed |
|
|
CA10559498 rs370220971 |
321 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781793466 CA10559497 |
321 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA415159883 rs781793466 |
321 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 322 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415159922 rs1210323293 |
323 | E>D | No |
ClinGen TOPMed |
|
|
rs975423508 CA337279659 |
324 | I>M | No |
ClinGen TOPMed |
|
|
rs149261694 CA10559500 |
326 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415159972 rs782520963 |
326 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs782520963 CA10559501 |
326 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs374193459 CA10559502 |
327 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA415159988 rs1557169146 |
327 | K>M | No |
ClinGen gnomAD |
|
|
rs781854252 CA10559503 |
330 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs921494097 CA337279665 |
332 | R>C | No |
ClinGen Ensembl |
|
|
CA10559504 rs782301272 |
332 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1557169152 CA415160134 |
334 | I>L | No |
ClinGen gnomAD |
|
|
CA10559507 rs782353315 |
335 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782353315 CA415160169 |
335 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415160198 rs1557169158 |
336 | C>S | No |
ClinGen gnomAD |
|
|
CA415160233 rs1362884172 |
338 | M>T | No |
ClinGen TOPMed |
|
|
rs924813256 CA337279685 |
338 | M>V | No |
ClinGen Ensembl |
|
|
CA10559509 rs200827513 |
339 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10559508 rs781989990 |
339 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA337279696 rs200827513 |
339 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1557169170 CA415160341 |
342 | N>S | No |
ClinGen gnomAD |
|
|
rs782732237 CA10559513 |
343 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10559512 rs782048391 |
343 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782039078 CA10559511 |
343 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415162150 rs1557170435 |
344 | V>L | No |
ClinGen gnomAD |
|
|
rs183077063 CA337281948 |
345 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA415162211 rs372864317 CA415162206 |
346 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10559530 rs372864317 |
346 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557170444 CA415162230 |
347 | A>T | No |
ClinGen gnomAD |
|
|
CA10559533 rs782001064 |
351 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415162345 rs1557170452 |
352 | S>C | No |
ClinGen TOPMed |
|
|
CA10559534 rs782148972 |
353 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782224361 CA10559535 |
353 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781917493 CA10559536 |
356 | T>I | No |
ClinGen ExAC |
|
|
CA10559537 rs377204314 |
357 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782740394 CA10559538 |
358 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557170468 CA415162599 |
360 | A>S | No |
ClinGen gnomAD |
|
|
rs781830344 CA10559539 |
360 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782571242 CA10559540 |
361 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782342823 CA337281986 |
363 | F>C | No |
ClinGen gnomAD |
|
|
rs369823381 CA10559541 |
363 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387308417 CA415162742 |
364 | A>G | No |
ClinGen TOPMed |
|
|
rs1557170484 CA415162721 |
364 | A>T | No |
ClinGen gnomAD |
|
|
CA415162762 rs1462748044 |
365 | A>D | No |
ClinGen TOPMed |
|
|
CA415162747 rs1165174197 |
365 | A>T | No |
ClinGen TOPMed |
|
|
CA10559544 rs144486560 |
368 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10559545 rs782297564 |
368 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557170505 CA415162850 |
369 | R>G | No |
ClinGen gnomAD |
|
|
rs192912565 CA10559546 |
369 | R>Q | Variant assessed as Somatic; 0.00025 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA415162878 rs1557170516 |
370 | A>G | No |
ClinGen gnomAD |
|
|
rs782242540 CA10559548 |
370 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA415163018 rs1464480791 |
372 | D>G | No |
ClinGen TOPMed |
|
|
CA415162958 rs1557170520 |
372 | D>N | No |
ClinGen gnomAD |
|
|
rs1273933181 CA415163030 |
373 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1557170527 CA415163050 |
373 | H>R | No |
ClinGen gnomAD |
|
|
rs199975610 CA337282026 |
374 | I>M | No |
ClinGen TOPMed |
|
|
rs1215785812 CA415163066 |
374 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1229331 rs782030512 CA10559550 |
375 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201125069 COSM72987 CA337282037 |
377 | G>A | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA415163265 rs782327141 |
378 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559552 rs782327141 |
378 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415163290 rs201452569 |
380 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10559553 rs201452569 |
380 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557170547 CA415163349 |
381 | E>K | No |
ClinGen gnomAD |
|
|
rs782096714 CA10559554 |
382 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782747694 CA10559555 |
383 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559556 rs782008636 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA415163736 rs1391739554 |
390 | H>Q | No |
ClinGen TOPMed |
|
|
CA10559557 rs375728679 |
390 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372054381 CA337282078 |
393 | V>L | No |
ClinGen ESP gnomAD |
|
|
rs782820168 CA10559558 |
394 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782454609 CA10559560 |
395 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559585 rs782610669 |
396 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782516762 CA10559587 |
399 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10559588 rs782672188 |
402 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559589 rs782301914 |
402 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA415164714 rs1223233989 |
404 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 406 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415164803 rs1557171263 |
406 | E>G | No |
ClinGen gnomAD |
|
|
CA337282689 rs782556342 |
408 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 409 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415165000 rs1290728171 |
410 | M>T | No |
ClinGen TOPMed |
|
|
rs1330289327 CA415164976 |
410 | M>V | No |
ClinGen TOPMed |
|
|
CA415165112 rs1222633627 |
413 | T>S | No |
ClinGen TOPMed |
|
|
rs1057352244 CA337282696 |
416 | K>E | No |
ClinGen gnomAD |
|
|
rs142614631 CA10559592 |
418 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA415165270 rs1557171270 |
419 | I>V | No |
ClinGen gnomAD |
|
|
CA415165304 rs1557171272 |
420 | F>I | No |
ClinGen gnomAD |
|
|
rs782611870 CA10559596 |
421 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415165373 rs1389181913 |
423 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10559597 rs781919767 |
423 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10559599 rs782721129 |
425 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200090213 CA10559601 |
426 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782774728 CA10559602 |
427 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10559603 rs191591693 |
428 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415165592 rs781992606 |
430 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781992606 CA10559605 |
430 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10559606 rs782232261 |
432 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143592962 CA10559607 |
433 | A>G | No |
ClinGen ESP ExAC |
|
|
rs782610528 CA10559608 |
435 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10559609 rs782346636 |
437 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10559610 rs146779031 |
438 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10559611 rs146779031 |
438 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781864611 CA10559638 |
440 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415167182 rs1196550783 |
441 | M>I | No |
ClinGen TOPMed |
|
|
rs936805186 CA337283480 |
441 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781964116 CA10559641 |
444 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10559642 rs782108113 |
447 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371034985 CA10559645 |
448 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371034985 CA10559644 |
448 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10559646 rs140507131 |
451 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415167370 rs1557171724 |
451 | T>S | No |
ClinGen gnomAD |
|
|
CA415167380 rs1300685684 |
452 | M>T | No |
ClinGen TOPMed |
|
|
CA10559647 rs781801003 |
452 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA415167501 rs782747271 |
457 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782747271 CA10559649 |
457 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782621324 CA10559651 |
460 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782667299 CA10559652 |
460 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415167641 rs370025375 |
463 | I>M | No |
ClinGen gnomAD |
|
|
CA10559654 rs782445587 |
466 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10559699 rs782538374 |
470 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10559700 rs782677354 |
472 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1376216820 CA415168843 |
473 | V>G | No |
ClinGen TOPMed |
|
|
rs1299359221 CA415168850 |
474 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782177823 CA10559701 |
477 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs782322974 CA10559702 |
478 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10559703 rs781955545 |
480 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557172241 CA415169101 |
485 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 489 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557172245 CA415169337 |
495 | E>K | No |
ClinGen gnomAD |
|
|
rs782175414 CA337284342 |
497 | S>L | No |
ClinGen gnomAD |
|
|
CA10559706 rs782008861 |
498 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10559720 rs376278544 |
501 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337284398 rs782716102 |
502 | F>S | No |
ClinGen 1000Genomes |
|
|
CA10559722 rs782491397 |
504 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782641231 CA415169787 |
506 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA415169841 rs1238902969 |
508 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10559724 rs782265228 |
511 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201077880 CA10559725 |
512 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559726 rs782032377 |
516 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415170005 rs1557172314 |
517 | A>T | No |
ClinGen gnomAD |
|
|
CA415170014 rs1557172316 |
517 | A>V | No |
ClinGen gnomAD |
|
|
CA10559730 rs199581980 |
518 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415170045 rs1557172325 |
519 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 520 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10559732 rs782017163 |
520 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA415170155 rs1557172329 |
522 | S>N | No |
ClinGen gnomAD |
|
|
rs782698965 CA10559734 |
525 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557172332 CA415170255 |
526 | T>A | No |
ClinGen gnomAD |
|
|
CA10559735 rs781802203 COSM1117873 |
529 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs146749788 CA10559736 |
531 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557172343 CA415170418 |
532 | T>I | No |
ClinGen gnomAD |
|
|
rs782370507 CA10559738 |
537 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs373103609 CA337284499 |
538 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1557172718 CA415171000 |
542 | I>V | No |
ClinGen gnomAD |
|
|
CA415171040 rs1557172725 |
543 | G>R | No |
ClinGen gnomAD |
|
|
CA415171132 rs782124719 |
547 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10559756 rs199544899 |
548 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10559758 rs782707094 |
549 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10559757 rs782707094 |
549 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 549 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146609649 CA10559760 |
550 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 551 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415171223 rs1557172746 |
552 | M>I | No |
ClinGen gnomAD |
|
|
CA337285497 rs989038019 |
552 | M>T | No |
ClinGen gnomAD |
|
|
rs781865919 CA10559761 |
554 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1350572321 CA415171303 |
556 | I>V | No |
ClinGen TOPMed |
|
|
CA415171374 rs1557172751 |
559 | H>Q | No |
ClinGen gnomAD |
|
|
CA10559763 rs782676053 |
559 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10559762 COSM1715860 rs782531190 |
559 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs185709468 CA337285504 |
560 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
rs1369673325 CA415171393 |
561 | L>M | No |
ClinGen TOPMed |
|
|
rs782327341 CA10559765 |
563 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA337285537 COSM1229332 rs913505109 |
564 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10559767 rs371201153 |
565 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557172763 CA415171466 |
565 | G>R | No |
ClinGen gnomAD |
|
|
CA10559768 rs782382478 |
566 | V>M | No |
ClinGen ExAC |
|
|
CA10559769 rs782002162 |
567 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782002162 CA415171491 |
567 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175446850 CA415171521 |
568 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1557172775 CA415171541 |
569 | S>I | No |
ClinGen gnomAD |
|
|
CA10559770 rs782152120 |
570 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559772 rs781929252 |
573 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA415171691 rs1557172787 |
576 | L>M | No |
ClinGen gnomAD |
|
|
CA415171692 rs1557172787 |
576 | L>V | No |
ClinGen gnomAD |
|
|
CA415171775 rs1482558404 |
578 | M>I | No |
ClinGen TOPMed |
|
|
rs1184017743 CA415171735 |
578 | M>V | No |
ClinGen TOPMed |
|
|
rs782795651 CA10559773 |
579 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782727367 CA10559774 |
582 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1209918547 CA415171882 |
582 | S>T | No |
ClinGen TOPMed |
|
|
CA415171902 rs1557172799 |
583 | A>T | No |
ClinGen gnomAD |
|
|
rs782122038 CA10559776 |
584 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA337285605 rs368579797 |
587 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1226155021 CA415172017 |
588 | V>A | No |
ClinGen TOPMed |
|
|
rs1557172807 CA415172002 |
588 | V>M | No |
ClinGen gnomAD |
|
|
CA415172069 rs1557172811 |
590 | V>G | No |
ClinGen gnomAD |
|
|
rs1313144890 CA415172060 |
590 | V>M | No |
ClinGen TOPMed |
|
|
CA337285611 rs782385349 |
591 | K>R | No |
ClinGen gnomAD |
|
|
rs1557172817 CA415172111 |
592 | C>W | No |
ClinGen gnomAD |
|
|
rs1302136479 CA415172143 |
593 | M>T | No |
ClinGen TOPMed |
|
|
rs190080682 CA10559780 |
593 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415172183 rs1390879637 |
595 | L>P | No |
ClinGen TOPMed |
No associated diseases with P51854
4 regional properties for P51854
Functions
| Description | ||
|---|---|---|
| EC Number | 2.2.1.1 | Transketolases and transaldolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| thiamine pyrophosphate binding | Binding to thiamine pyrophosphate, the diphosphoric ester of thiamine. Acts as a coenzyme of several (de)carboxylases, transketolases, and alpha-oxoacid dehydrogenases. |
| transketolase activity | Catalysis of the reversible transfer of a 2-carbon ketol group (CH2OH-CO-) from a ketose phosphate donor to an aldose phosphate acceptor. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| glucose catabolic process | The chemical reactions and pathways resulting in the breakdown of glucose, the aldohexose gluco-hexose. |
| thiamine metabolic process | The chemical reactions and pathways involving thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADAEARAEF | PEEARPDRGT | LQVLQDMASR | LRIHSIRATC | STSSGHPTSC | SSSSEIMSVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FFYIMRYKQS | DPENPDNDRF | VLAKRLSFVD | VATGWLGQGL | GVACGMAYTG | KYFDRASYRV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FCLMSDGESS | EGSVWEAMAF | ASYYSLDNLV | AIFDVNRLGH | SGALPAEHCI | NIYQRRCEAF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GWNTYVVDGR | DVEALCQVFW | QASQVKHKPT | AVVAKTFKGR | GTPSIEDAES | WHAKPMPRER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADAIIKLIES | QIQTSRNLDP | QPPIEDSPEV | NITDVRMTSP | PDYRVGDKIA | TRKACGLALA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLGYANNRVV | VLDGDTRYST | FSEIFNKEYP | ERFIECFMAE | QNMVSVALGC | ASRGRTIAFA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STFAAFLTRA | FDHIRIGGLA | ESNINIIGSH | CGVSVGDDGA | SQMALEDIAM | FRTIPKCTIF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YPTDAVSTEH | AVALAANAKG | MCFIRTTRPE | TMVIYTPQER | FEIGQAKVLR | HCVSDKVTVI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GAGITVYEAL | AAADELSKQD | IFIRVIDLFT | IKPLDVATIV | SSAKATEGRI | ITVEDHYPQG |
| 550 | 560 | 570 | 580 | 590 | |
| GIGEAVCAAV | SMDPDIQVHS | LAVSGVPQSG | KSEELLDMYG | ISARHIIVAV | KCMLLN |