P06737
PR
Gene name |
PYGL |
Protein name |
Glycogen phosphorylase, liver form |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5836 |
EC number |
2.4.1.1: Hexosyltransferases |
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
20 structures for P06737
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1EM6 | X-ray | 220 A | A/B | 1-847 | PDB |
| 1EXV | X-ray | 240 A | A/B | 1-847 | PDB |
| 1FA9 | X-ray | 240 A | A | 2-847 | PDB |
| 1FC0 | X-ray | 240 A | A/B | 2-847 | PDB |
| 1L5Q | X-ray | 225 A | A/B | 1-847 | PDB |
| 1L5R | X-ray | 210 A | A/B | 1-847 | PDB |
| 1L5S | X-ray | 210 A | A/B | 1-847 | PDB |
| 1L7X | X-ray | 230 A | A/B | 1-847 | PDB |
| 1XOI | X-ray | 210 A | A/B | 2-847 | PDB |
| 2ATI | X-ray | 190 A | A/B | 2-847 | PDB |
| 2QLL | X-ray | 256 A | A | 1-847 | PDB |
| 2ZB2 | X-ray | 245 A | A/B | 1-847 | PDB |
| 3CEH | X-ray | 280 A | A/B | 24-832 | PDB |
| 3CEJ | X-ray | 330 A | A/B | 24-832 | PDB |
| 3CEM | X-ray | 247 A | A/B | 24-832 | PDB |
| 3DD1 | X-ray | 257 A | A/B | 2-847 | PDB |
| 3DDS | X-ray | 180 A | A/B | 2-847 | PDB |
| 3DDW | X-ray | 190 A | A/B | 2-847 | PDB |
| 8EMS | EM | 265 A | A/B | 1-829 | PDB |
| AF-P06737-F1 | Predicted | AlphaFoldDB |
746 variants for P06737
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2050732195 RCV001218780 |
6 | T>P | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2050731690 RCV001293799 |
12 | R>missing | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341924 RCV000594520 rs113993972 RCV000020503 |
13 | Q>P | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389699729 RCV000705536 rs1566518078 |
14 | I>N | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002460948 rs786204785 RCV000169673 |
15 | S>missing | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293798 rs1375868904 |
24 | N>K | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
CA260846444 rs150483902 RCV000989224 |
59 | T>K | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000173285 COSM4148121 RCV000969287 rs150483902 CA200429 |
59 | T>M | thyroid Glycogen storage disease, type VI [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001217010 rs1555328661 |
70 | R>S | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000020502 rs113993973 CA341922 |
94 | R>* | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA260843181 RCV001210417 rs200623468 |
95 | T>A | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000661963 rs1555328280 |
100 | M>missing | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389697689 RCV001335985 rs1273055538 |
100 | M>V | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001112590 rs762102544 CA7183851 |
104 | G>S | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001112589 rs745625131 CA7183848 |
108 | A>T | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144099482 RCV000794445 CA7183829 COSM3671929 |
122 | E>K | prostate Glycogen storage disease, type VI [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7183822 rs780574052 RCV000807606 |
134 | N>S | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389695815 rs1596047964 RCV000810843 |
150 | T>I | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA915948823 rs1596047883 RCV001027704 |
170 | K>* | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792682 rs770642815 CA7183760 |
187 | G>R | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs34096980 RCV000761876 RCV000325829 CA7183751 RCV000595200 |
204 | Y>C | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000268404 RCV000244117 RCV000675371 VAR_007907 rs946616 CA7183716 |
222 | V>I | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148378112 RCV000361092 COSM3356693 CA7183708 RCV002522303 |
231 | V>M | haematopoietic_and_lymphoid_tissue Glycogen storage disease, type VI Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA341926 rs113993975 RCV000020504 |
233 | G>D | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs749922511 CA7183705 RCV000989223 RCV000592955 |
233 | G>S | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type VI [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA7183704 rs200920293 RCV001110600 |
235 | M>T | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1445713979 RCV001228479 CA389691737 COSM3401348 |
243 | R>H | Variant assessed as Somatic; impact. central_nervous_system Glycogen storage disease, type VI [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA389691626 rs1472614445 RCV001330996 |
250 | P>L | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1489848369 RCV000779140 |
261 | G>missing | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001110598 rs2050490818 |
275 | N>D | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7183652 RCV000404844 rs375172368 COSM1222831 |
278 | R>Q | large_intestine Glycogen storage disease, type VI [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110597 rs774143179 CA7183629 |
304 | T>A | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001047405 rs758943884 |
305 | L>missing | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35501326 RCV000675368 CA7183625 RCV001087845 |
310 | R>C | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002285291 rs116465563 CA7183616 RCV000355222 COSM1222828 RCV000248549 |
321 | R>H | large_intestine Glycogen storage disease, type VI [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10645427 RCV000300406 rs886050538 |
335 | A>D | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs113993976 CA342908 VAR_007908 RCV000031853 |
339 | N>S | Glycogen storage disease, type VI GSD6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs771331012 RCV001109810 CA7183578 |
355 | V>M | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA341171 RCV000012775 rs113993977 VAR_007909 |
377 | N>K | Glycogen storage disease, type VI GSD6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM3690102 rs143759519 RCV000625936 CA7183547 |
382 | P>L | large_intestine Glycogen storage disease, type VI [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001327626 CA7183543 rs773575319 |
387 | R>C | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type VI [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000760439 RCV000020492 rs113993978 CA341904 |
399 | R>* | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000296829 CA7183533 rs369207678 |
399 | R>Q | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2228499 CA7183503 RCV001069939 RCV000245720 |
425 | R>H | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2050437440 RCV001211148 |
445 | L>P | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000020493 CA341906 rs113993979 |
456 | V>M | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs779051230 RCV000692848 CA389687458 |
464 | V>L | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs143571464 RCV001113835 CA7183484 |
468 | V>E | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA7183462 RCV001392683 rs78433217 |
470 | K>N | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7183458 rs138888959 RCV001043719 |
485 | N>S | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000020494 CA341908 rs113993980 |
491 | R>C | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type VI [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138461745 RCV002533499 RCV000697752 CA7183429 |
528 | D>N | Glycogen storage disease, type VI Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7183370 rs149096315 RCV000779139 RCV001585707 |
577 | Q>* | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375136222 RCV001344263 CA260822811 |
583 | H>R | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV003165843 rs144989341 RCV000385175 CA7183363 |
586 | T>M | Glycogen storage disease, type VI Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs767847163 CA389683902 RCV001231964 |
611 | A>T | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type VI [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs113993983 CA341910 RCV000020495 |
632 | N>I | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA240710 RCV000175038 rs35026927 COSM3690101 RCV000020496 RCV000675363 |
634 | D>H | large_intestine Glycogen storage disease, type VI [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA275031 rs150547274 RCV000175037 RCV002516658 |
649 | Y>* | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000020497 CA341912 rs113993984 |
673 | E>K | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000020499 CA341916 rs113993986 |
675 | S>L | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA341914 rs113993985 RCV000020498 |
675 | S>T | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA341918 rs113993987 RCV000020500 |
681 | K>T | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001293800 rs2050377435 |
686 | G>R | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2050376472 RCV001304479 |
688 | L>missing | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811116 CA7183229 CA7183230 rs539898848 |
691 | G>R | Glycogen storage disease, type VI Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
rs368758632 RCV001330994 CA7183226 |
695 | G>R | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691592 rs555408487 CA260821502 |
704 | A>T | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000791512 rs759925909 CA7183174 |
737 | P>S | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7183172 rs766875279 RCV000378008 |
739 | L>M | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000247735 RCV000556809 CA7183102 VAR_034427 rs34313873 |
806 | I>L | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7183101 rs760187622 RCV000809511 |
809 | S>L | Variant assessed as Somatic; 4.62e-05 impact. Glycogen storage disease, type VI [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000020501 rs113993988 CA341920 |
821 | Y>H | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756205397 CA7183094 RCV000779138 |
823 | Q>* | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs78558135 RCV000353747 VAR_069054 RCV000244701 CA7183086 RCV000675360 |
845 | N>S | Glycogen storage disease, type VI [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002261349 RCV001342194 RCV002546950 rs147863207 CA7183085 |
847 | N>I | Glycogen storage disease, type VI Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA389699808 rs1326178540 |
2 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389699785 rs1358329655 |
5 | L>Q | No |
ClinGen gnomAD |
|
|
rs1442900833 CA389699787 |
5 | L>V | No |
ClinGen gnomAD |
|
|
CA389699780 rs748412122 |
6 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183929 rs748412122 |
6 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389699779 rs748412122 |
6 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389699774 rs1395857384 |
7 | D>G | No |
ClinGen gnomAD |
|
|
rs1275636644 CA389699776 |
7 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389699750 rs1210335662 |
10 | K>R | No |
ClinGen TOPMed |
|
|
CA7183924 rs758520596 |
11 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746068032 CA7183923 |
11 | R>L | No |
ClinGen ExAC |
|
|
CA260846561 rs1024574101 |
12 | R>W | No |
ClinGen Ensembl |
|
|
CA389699722 rs1236077996 |
15 | S>N | No |
ClinGen gnomAD |
|
|
rs757517868 CA7183921 |
16 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7183920 rs752372810 |
17 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183919 rs781203351 |
18 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA389699706 rs781203351 |
18 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1308567389 CA389699694 |
20 | V>M | No |
ClinGen gnomAD |
|
|
rs1371512729 CA389699683 |
21 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7183916 rs765957995 |
22 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389699682 rs765957995 |
22 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389699677 rs1416320401 |
23 | E>K | No |
ClinGen gnomAD |
|
|
CA7183915 rs762330673 |
25 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA389699653 rs868121793 |
26 | A>E | No |
ClinGen Ensembl |
|
|
rs868121793 CA260846529 |
26 | A>V | No |
ClinGen Ensembl |
|
|
rs376771385 CA260846523 |
27 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA7183910 rs769065285 |
28 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1384809667 CA389699628 |
30 | K>R | No |
ClinGen TOPMed |
|
|
CA389699607 rs1322889020 |
33 | N>D | No |
ClinGen TOPMed |
|
|
rs772594764 CA7183907 |
33 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183908 rs772594764 |
33 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389699599 rs1475713698 |
34 | R>P | No |
ClinGen gnomAD |
|
|
rs745882469 CA260846508 |
35 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484727877 CA389699580 |
37 | H>L | No |
ClinGen gnomAD |
|
|
CA389699577 rs1566517954 |
38 | F>V | No |
ClinGen Ensembl |
|
|
CA389699558 rs1320593891 |
41 | V>I | No |
ClinGen gnomAD |
|
|
CA260846498 rs754045392 |
44 | R>C | No |
ClinGen gnomAD |
|
|
CA389699498 rs1380737482 |
48 | T>A | No |
ClinGen gnomAD |
|
|
CA7183900 rs751434020 |
49 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751434020 CA7183901 |
49 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389699471 rs1206679301 |
50 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260846465 rs999162918 |
54 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs143343506 CA7183897 |
56 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1022217623 CA260846452 |
57 | A>V | No |
ClinGen TOPMed |
|
|
rs1178372984 CA389699332 |
61 | R>S | No |
ClinGen gnomAD |
|
|
rs2050729007 RCV001090534 |
63 | H>missing | No |
ClinVar dbSNP |
|
|
CA7183893 rs760984572 |
63 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA389699268 rs1257172381 |
66 | G>E | No |
ClinGen gnomAD |
|
|
rs772395656 CA7183891 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772395656 CA389699270 |
66 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs760159787 CA7183890 |
67 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA389699230 rs1255344147 |
69 | I>V | No |
ClinGen gnomAD |
|
|
rs1555328661 CA389699215 |
70 | R>C | No |
ClinGen Ensembl |
|
|
CA389699208 rs1296507821 |
70 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1404556588 CA389699203 |
71 | T>K | No |
ClinGen TOPMed |
|
|
rs1404556588 CA389699198 |
71 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 72 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200022636 CA260846422 |
73 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs1368837545 CA389699159 |
74 | H>R | No |
ClinGen gnomAD |
|
|
rs771094581 CA7183888 |
75 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389699131 rs1442265170 |
76 | Y>* | No |
ClinGen gnomAD |
|
|
rs1400133734 CA389699125 |
77 | D>Y | No |
ClinGen gnomAD |
|
|
rs1374014307 CA389699098 |
79 | C>G | No |
ClinGen gnomAD |
|
|
CA389699100 rs1374014307 |
79 | C>S | No |
ClinGen gnomAD |
|
|
CA7183887 rs749441353 |
79 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1453459256 CA389699065 |
81 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1453459256 CA389699068 |
81 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745759372 CA7183864 |
83 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778868070 CA7183863 |
84 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA389697860 rs1377678037 |
85 | Y>* | No |
ClinGen gnomAD |
|
|
rs757160355 CA7183862 |
85 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1383614808 CA389697840 |
87 | S>F | No |
ClinGen gnomAD |
|
|
CA389697844 rs1434995735 |
87 | S>P | No |
ClinGen gnomAD |
|
|
CA7183860 rs777335586 |
88 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7183859 rs187939933 |
90 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752398453 CA7183858 |
91 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1187171204 CA389697785 |
92 | M>L | No |
ClinGen gnomAD |
|
|
rs767745350 CA389697779 |
92 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767745350 CA7183857 |
92 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183856 rs751894444 |
94 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389697730 rs1566514273 |
97 | Q>E | No |
ClinGen Ensembl |
|
|
CA389697701 rs1351496313 |
99 | T>N | No |
ClinGen gnomAD |
|
|
CA389697699 rs1351496313 |
99 | T>S | No |
ClinGen gnomAD |
|
|
rs763559339 CA7183854 |
102 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA7183852 rs762102544 |
104 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1011021528 CA260843166 |
105 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 106 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389697603 rs1415005601 |
107 | N>H | No |
ClinGen gnomAD |
|
|
CA7183849 rs745625131 |
108 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389697578 rs1383375391 |
108 | A>V | No |
ClinGen gnomAD |
|
|
rs1385077729 CA389697562 |
109 | C>S | No |
ClinGen gnomAD |
|
|
CA7183847 rs774026070 |
110 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164101706 CA389697552 |
110 | D>Y | No |
ClinGen gnomAD |
|
|
CA389697512 rs770784773 |
113 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183846 rs770784773 |
113 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183834 rs751015932 |
116 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA389696987 rs1424564342 |
117 | G>A | No |
ClinGen TOPMed |
|
|
CA7183833 rs540020530 |
118 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389696982 rs1305336269 |
118 | L>V | No |
ClinGen gnomAD |
|
|
rs1326500867 CA389696968 |
119 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1326500867 CA389696966 |
119 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1326500867 CA389696964 |
119 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389696951 rs1159794818 |
120 | I>M | No |
ClinGen TOPMed |
|
|
CA7183831 rs574414679 |
120 | I>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761940959 CA7183832 |
120 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7183830 rs764316273 |
121 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA389696943 rs1169844602 |
121 | E>G | No |
ClinGen gnomAD |
|
|
rs770764452 CA389696898 |
125 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7183827 rs770764452 |
125 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762850515 CA7183826 |
126 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs773096764 CA7183825 |
127 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA389696852 rs1390426380 |
129 | D>H | No |
ClinGen TOPMed |
|
|
rs1045853735 CA260841824 |
130 | A>V | No |
ClinGen TOPMed |
|
|
CA260841823 rs932051340 |
131 | G>A | No |
ClinGen gnomAD |
|
|
CA389696826 rs932051340 |
131 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976069023 CA260841822 |
132 | L>F | No |
ClinGen Ensembl |
|
|
rs747636448 CA7183823 |
133 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7183820 rs746697171 |
135 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA389696782 rs1358067880 |
135 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389696716 rs1258091817 |
140 | L>V | No |
ClinGen TOPMed |
|
|
CA389696686 rs1483703315 |
141 | A>P | No |
ClinGen TOPMed |
|
|
rs946030711 CA260841818 |
142 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7183801 rs746639258 |
144 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775243646 CA7183800 |
148 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7183798 rs746173801 |
152 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA389695750 rs1452041609 |
154 | A>V | No |
ClinGen TOPMed |
|
|
CA389695734 rs1286201198 |
155 | A>D | No |
ClinGen gnomAD |
|
|
rs1174898845 CA389695737 |
155 | A>T | No |
ClinGen TOPMed |
|
|
rs974016307 CA260840052 |
156 | Y>C | No |
ClinGen TOPMed |
|
|
CA389695723 rs1228985409 |
156 | Y>H | No |
ClinGen gnomAD |
|
|
rs139032686 CA389695659 |
159 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139032686 CA7183796 |
159 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7183794 rs147387589 |
161 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7183795 rs749811385 |
161 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA389695616 rs1332315243 |
162 | Y>D | No |
ClinGen TOPMed |
|
|
rs951339142 CA260840030 |
164 | Y>C | No |
ClinGen Ensembl |
|
|
rs756112271 CA7183793 |
167 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1461441516 CA389695490 |
168 | N>K | No |
ClinGen gnomAD |
|
|
CA7183792 rs374559662 |
168 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1416130517 CA389695439 |
172 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755197431 CA7183790 |
173 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7183789 rs750216984 |
175 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753689697 CA7183767 |
177 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs752247863 CA7183764 |
180 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7183765 rs760662237 |
180 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7183763 rs767190580 |
181 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759235798 CA7183762 |
184 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774108992 CA7183761 |
186 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA260832647 rs1005590513 |
189 | P>H | No |
ClinGen gnomAD |
|
|
CA389693501 rs1383181258 |
190 | W>* | No |
ClinGen TOPMed |
|
|
rs1273413259 CA389693505 |
190 | W>R | No |
ClinGen gnomAD |
|
|
rs1384156884 CA389693475 |
191 | E>* | No |
ClinGen TOPMed |
|
|
CA389693427 rs1453212091 |
193 | S>A | No |
ClinGen gnomAD |
|
|
CA389693408 rs1392772806 |
194 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs758005615 CA7183757 |
194 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7183758 rs758005615 COSM314623 |
194 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA389693276 rs768762629 CA7183754 |
198 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs372796851 CA7183755 |
198 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1275561137 CA389693264 |
199 | L>M | No |
ClinGen gnomAD |
|
|
rs780090466 CA7183752 |
203 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1345778137 CA389693186 |
203 | F>L | No |
ClinGen gnomAD |
|
|
rs371889140 CA7183750 |
206 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7183748 rs756105266 |
207 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756910972 CA7183749 |
207 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260832585 rs745937444 |
209 | H>L | No |
ClinGen Ensembl |
|
|
rs1258766601 CA389693015 |
211 | N>D | No |
ClinGen TOPMed |
|
|
rs904568519 CA260832582 |
211 | N>S | No |
ClinGen Ensembl |
|
|
CA7183746 rs767597181 |
213 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1043083798 CA260832572 |
213 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1173764009 CA389692952 |
214 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA389692954 rs1173764009 |
214 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1466111181 CA389692918 RCV000675372 |
215 | K>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA260832541 rs111630120 |
215 | K>R | No |
ClinGen Ensembl |
|
|
CA7183744 rs368025070 |
217 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA260832531 rs368025070 |
217 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765883994 CA7183743 |
218 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773437129 CA7183741 |
219 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs772239243 CA7183715 |
224 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs774586522 CA7183713 |
225 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771295143 CA7183712 |
226 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA389692035 rs1475247048 |
227 | Y>C | No |
ClinGen gnomAD |
|
|
CA7183711 rs747888816 |
229 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260830392 rs747888816 COSM3386574 |
229 | T>N | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA260830387 rs994672794 |
230 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389691984 rs1450204635 |
230 | P>H | No |
ClinGen gnomAD |
|
|
CA389691986 rs994672794 |
230 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA260830365 rs1042195 VAR_013095 |
231 | V>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA389691972 rs148378112 CA389691971 |
231 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291128222 CA389691946 |
232 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1291128222 CA389691941 |
232 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1453659042 CA389691949 COSM326290 |
232 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1453659042 CA389691955 |
232 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749922511 CA7183706 |
233 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1229918271 CA389691899 |
235 | M>L | No |
ClinGen gnomAD |
|
|
rs1229918271 CA389691900 |
235 | M>V | No |
ClinGen gnomAD |
|
|
rs1302556075 CA389691853 |
237 | N>S | No |
ClinGen gnomAD |
|
|
rs756907396 CA7183703 |
238 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA389691789 rs1490364891 |
240 | N>K | No |
ClinGen TOPMed |
|
|
rs764496790 CA7183700 |
242 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA260830311 rs143393106 |
242 | M>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
COSM1222829 rs1053584523 CA260830296 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1430463477 CA389691706 |
245 | W>* | No |
ClinGen gnomAD |
|
|
CA7183699 rs761061349 |
245 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1323473649 CA389691692 |
246 | S>P | No |
ClinGen gnomAD |
|
|
CA7183698 rs776101957 |
248 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260830287 rs938244743 |
248 | R>W | No |
ClinGen gnomAD |
|
|
rs767934063 CA7183697 |
251 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA389691588 rs1280935628 |
252 | D>E | No |
ClinGen gnomAD |
|
|
rs759606168 CA7183696 |
252 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183695 rs373378095 |
255 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373378095 CA389691542 |
255 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771278801 CA7183694 |
256 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7183693 rs749580699 |
257 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA389691356 rs1179806221 |
260 | V>A | No |
ClinGen gnomAD |
|
|
rs1566505833 CA389691338 |
262 | D>G | No |
ClinGen Ensembl |
|
|
rs1566505833 CA389691336 |
262 | D>V | No |
ClinGen Ensembl |
|
|
CA7183663 rs778368530 |
263 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA389691312 rs1237617520 |
264 | I>T | No |
ClinGen gnomAD |
|
|
rs770465670 CA389691299 |
265 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770465670 CA7183662 |
265 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773063956 CA7183660 |
266 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557868018 RCV000675369 CA7183658 |
269 | D>G | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs755729209 CA7183659 |
269 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7183657 rs781472201 |
270 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755488866 COSM303063 CA7183656 |
270 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1433006594 CA389691233 |
273 | A>T | No |
ClinGen gnomAD |
|
|
CA7183655 rs146541298 |
274 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1748876 CA7183654 rs767025037 |
276 | I>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA389691189 rs1461231984 |
277 | S>P | No |
ClinGen gnomAD |
|
|
rs763079127 CA7183653 |
278 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389691178 rs1346615306 |
279 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs910507230 CA260830072 |
279 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7183651 rs765432449 |
281 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1185368037 CA389691160 |
282 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000179851 rs775341500 CA247158 |
283 | N>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs775341500 CA7183650 |
283 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260830060 rs954614394 |
284 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 286 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7183638 rs747401136 |
286 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA389690629 rs1340097211 |
287 | F>L | No |
ClinGen TOPMed |
|
|
CA7183637 rs780652976 |
287 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758975276 CA7183636 |
289 | G>E | No |
ClinGen ExAC |
|
|
rs1327581647 CA389690548 |
291 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 291 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260827934 rs909843391 |
292 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389690488 rs181870928 |
294 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7183632 rs754047760 |
297 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764407801 CA7183631 |
298 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs759276092 CA7183630 |
299 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387660480 CA389690369 |
299 | F>S | No |
ClinGen gnomAD |
|
|
rs1373122258 CA389690341 |
301 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1373122258 CA389690346 |
301 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs983995663 CA260827890 |
303 | A>T | No |
ClinGen gnomAD |
|
|
CA389690294 rs774143179 |
304 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7183628 rs539025958 |
305 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389690217 rs1465111315 |
307 | D>G | No |
ClinGen gnomAD |
|
|
rs953924552 CA260827830 COSM1515351 |
308 | I>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA7183626 rs762936904 |
308 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1178166174 CA389690164 |
309 | I>T | No |
ClinGen gnomAD |
|
|
CA7183624 rs769231923 |
310 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769231923 CA389690145 |
310 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747729742 CA7183623 |
311 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7183621 rs372052157 |
311 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372052157 CA7183622 |
311 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7183620 rs747308884 |
315 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1419304769 CA389690024 |
315 | S>P | No |
ClinGen gnomAD |
|
|
rs780628813 CA7183619 CA389689947 |
317 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA389689974 rs1342992029 |
317 | F>L | No |
ClinGen gnomAD |
|
|
rs1345725169 CA389689968 |
317 | F>Y | No |
ClinGen TOPMed |
|
|
CA7183618 rs758956687 |
318 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389689915 rs1316690304 |
319 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs140620840 CA260827799 |
320 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7183617 rs746407083 |
321 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs757244083 CA7183615 |
323 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764163170 CA7183613 |
328 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs756397141 CA7183612 |
329 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs756397141 CA389689687 |
329 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7183611 rs766212182 |
331 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183610 rs766212182 |
331 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389689602 rs1473470531 |
333 | Q>* | No |
ClinGen gnomAD |
|
|
CA7183609 rs762846393 |
333 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1208446629 CA389689420 |
335 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1208446629 CA389689419 |
335 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389689416 rs886050538 |
335 | A>V | No |
ClinGen TOPMed |
|
|
rs570077088 CA260827617 |
336 | I>V | No |
ClinGen TOPMed |
|
|
rs773766040 CA260827616 |
337 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 337 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260827610 rs878928048 |
341 | T>N | No |
ClinGen Ensembl |
|
|
CA389689294 rs1244824048 |
341 | T>P | No |
ClinGen gnomAD |
|
|
CA7183586 rs761874487 |
344 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389689216 rs1322573405 |
345 | L>F | No |
ClinGen gnomAD |
|
|
CA7183582 rs775243628 |
346 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771871921 CA7183581 |
346 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195478135 CA389689108 |
351 | M>I | No |
ClinGen TOPMed |
|
|
CA7183577 rs541649127 |
357 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389688993 rs1453709379 |
363 | S>C | No |
ClinGen gnomAD |
|
|
CA389688986 rs1268998660 |
364 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA260827567 rs768273303 |
364 | K>N | No |
ClinGen gnomAD |
|
|
CA389688980 rs1222828851 |
364 | K>R | No |
ClinGen gnomAD |
|
|
rs1566503418 CA389688814 |
366 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1471831830 CA389688805 |
367 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1015110759 CA260827025 |
367 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1126549 CA260827009 |
369 | T>N | No |
ClinGen Ensembl |
|
|
rs1596036861 CA389688797 |
369 | T>P | No |
ClinGen Ensembl |
|
|
CA389688792 rs1425723564 |
370 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1477215920 CA614275300 |
371 | K>T | No |
ClinGen gnomAD |
|
|
rs1596036833 CA389688776 |
372 | T>P | No |
ClinGen Ensembl |
|
|
rs151022264 CA260827003 CA389688764 |
373 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11541446 CA389688762 |
374 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11541446 CA7183550 |
374 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375798542 RCV000658693 CA260826992 |
376 | T>A | No |
ClinGen ClinVar ESP dbSNP |
|
|
CA389688725 rs1255746947 |
379 | T>I | No |
ClinGen gnomAD |
|
|
CA389688723 rs1320573510 |
380 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1417212734 CA389688707 |
382 | P>S | No |
ClinGen TOPMed |
|
|
rs751185659 CA7183546 |
383 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7183544 rs773575319 |
387 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1222827 rs765731108 CA7183542 |
387 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765731108 CA389688645 |
387 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1040731057 CA260826970 |
388 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA260826968 rs866661249 |
389 | P>L | No |
ClinGen Ensembl |
|
|
CA389688626 rs1407423431 |
389 | P>T | No |
ClinGen gnomAD |
|
|
rs747085688 CA7183538 |
390 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs372627784 CA7183539 |
390 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315023625 CA389688602 |
391 | D>H | No |
ClinGen gnomAD |
|
|
CA389688595 rs1371684703 |
391 | D>V | No |
ClinGen TOPMed |
|
|
rs772195769 CA7183536 |
392 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA389688575 rs1308369029 |
393 | V>L | No |
ClinGen TOPMed |
|
|
rs1179569240 CA389688563 |
394 | E>* | No |
ClinGen gnomAD |
|
|
CA389688529 rs1473507091 |
396 | L>R | No |
ClinGen gnomAD |
|
|
CA389688493 rs369207678 |
399 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7183532 rs566841577 |
400 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321272862 CA389688342 |
409 | Q>R | No |
ClinGen gnomAD |
|
|
rs1238952276 CA389688304 |
411 | H>Q | No |
ClinGen TOPMed |
|
|
CA260826913 rs547105120 |
411 | H>R | No |
ClinGen 1000Genomes |
|
|
CA389688260 rs765994166 |
413 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751049259 CA7183530 |
413 | D>N | No |
ClinGen ExAC |
|
|
rs980391241 CA260826690 |
415 | I>F | No |
ClinGen TOPMed |
|
|
rs746528628 CA7183511 |
415 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566503052 CA389688102 |
416 | V>M | No |
ClinGen Ensembl |
|
|
rs758027511 CA389688066 |
418 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183508 rs750112830 |
421 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7183507 rs144167972 |
422 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7183506 rs757563889 |
423 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs199564431 CA260826653 |
424 | D>G | No |
ClinGen 1000Genomes |
|
|
CA7183505 rs754162674 |
424 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7183504 rs764594065 |
425 | R>C | No |
ClinGen ExAC gnomAD |
|
|
VAR_034425 CA260826638 rs2228499 |
425 | R>P | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7183501 rs767752682 |
427 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA389687876 rs1596036317 |
429 | M>L | No |
ClinGen Ensembl |
|
|
rs759723006 CA7183500 |
429 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596036307 CA389687849 |
431 | L>V | No |
ClinGen Ensembl |
|
|
rs774669157 CA389687839 |
432 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs771291423 CA7183498 |
432 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774669157 CA7183499 |
432 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs776361234 CA7183496 |
434 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761602735 CA7183497 |
434 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs967978673 CA260826595 |
442 | M>T | No |
ClinGen TOPMed |
|
|
CA389687691 rs1450079804 |
443 | A>V | No |
ClinGen TOPMed |
|
|
CA389687683 rs1566502989 |
444 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 445 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303792485 CA389687645 |
447 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs367969807 CA7183493 |
449 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901648862 CA260826563 |
451 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7183491 rs745400019 |
451 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389687599 rs1398057191 |
451 | H>R | No |
ClinGen gnomAD |
|
|
rs901648862 CA389687602 |
451 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389687579 rs1257256258 |
453 | V>A | No |
ClinGen TOPMed |
|
|
CA7183490 rs778476620 |
455 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199688614 CA389687463 |
463 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389687473 rs1566502944 |
463 | I>V | No |
ClinGen Ensembl |
|
|
CA260826552 rs779051230 |
464 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1440922248 CA389687450 |
465 | K>* | No |
ClinGen TOPMed |
|
|
CA389687428 rs1180343846 |
467 | K>E | No |
ClinGen gnomAD |
|
|
rs143571464 CA7183485 |
468 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1038998525 COSM956109 CA260826204 |
469 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1317069239 CA389687282 |
475 | L>I | No |
ClinGen gnomAD |
|
|
rs1566502714 CA389687267 |
476 | E>A | No |
ClinGen Ensembl |
|
|
rs1441238984 CA389687259 |
477 | P>S | No |
ClinGen gnomAD |
|
|
rs1453358130 CA389687251 |
478 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1453358130 CA389687248 |
478 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7183461 rs760324330 |
479 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389687225 rs1378825853 |
480 | F>L | No |
ClinGen gnomAD |
|
|
CA389687211 rs1318218293 |
481 | Q>E | No |
ClinGen gnomAD |
|
|
rs201687458 CA7183460 |
482 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389687171 rs1162935219 |
484 | T>N | No |
ClinGen gnomAD |
|
|
rs202149628 CA260826186 |
488 | T>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs150701003 CA7183456 |
491 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA260826175 rs1042609342 |
492 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs371462026 RCV000597469 CA7183455 |
495 | L>F | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs1208939202 CA389687023 |
498 | P>L | No |
ClinGen gnomAD |
|
|
CA260826165 rs530554392 |
499 | G>A | No |
ClinGen 1000Genomes |
|
|
rs1356623577 CA389686981 |
504 | I>M | No |
ClinGen gnomAD |
|
|
rs565556240 CA7183454 |
505 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs767347248 | 507 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7183439 rs759437587 |
509 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs141992494 CA7183438 |
512 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7183436 rs762303977 |
515 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs553204325 CA7183434 |
516 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA260823479 rs369508494 |
517 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA389686335 rs1273971952 |
519 | L>M | No |
ClinGen gnomAD |
|
|
COSM956106 rs536165697 CA7183431 |
520 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7183432 rs536165697 |
520 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389686308 rs1284192238 |
521 | K>R | No |
ClinGen gnomAD |
|
|
CA260823452 rs375494656 |
523 | H>L | No |
ClinGen Ensembl |
|
|
CA389686283 rs1168582731 |
523 | H>Y | No |
ClinGen TOPMed |
|
|
CA260823446 rs992370779 |
524 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs747396820 CA7183430 |
526 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs772635162 CA7183428 |
528 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA389686202 rs1329637093 |
529 | D>A | No |
ClinGen TOPMed |
|
|
CA260823420 rs974196756 |
529 | D>N | No |
ClinGen Ensembl |
|
|
CA389686187 rs1481634163 |
530 | V>D | No |
ClinGen gnomAD |
|
|
rs779105590 CA7183426 |
531 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7183424 rs778002035 |
533 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778002035 CA7183423 |
533 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757446684 CA7183425 |
533 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751361064 CA7183421 |
536 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596034407 CA389686084 |
538 | V>A | No |
ClinGen Ensembl |
|
|
rs1243705562 CA389685957 |
542 | N>Y | No |
ClinGen gnomAD |
|
|
CA389685951 rs1187641828 |
543 | K>Q | No |
ClinGen gnomAD |
|
|
rs901346585 CA260822922 |
544 | L>P | No |
ClinGen Ensembl |
|
|
rs529502292 RCV000174737 |
550 | L>missing | No |
ClinVar dbSNP |
|
|
rs183596264 CA7183388 |
552 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs865910986 CA260822906 |
553 | E>K | No |
ClinGen Ensembl |
|
|
rs769982974 CA7183386 |
555 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1029529206 CA260822898 |
557 | K>R | No |
ClinGen TOPMed |
|
|
CA7183385 rs748445812 |
558 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1596033725 CA389685797 |
558 | I>V | No |
ClinGen Ensembl |
|
|
CA7183384 rs781302826 |
560 | P>A | No |
ClinGen ExAC TOPMed |
|
|
rs758167980 CA7183383 |
560 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1430936667 CA389685754 |
561 | S>Y | No |
ClinGen gnomAD |
|
|
CA389685738 rs1426028494 |
563 | M>V | No |
ClinGen gnomAD |
|
|
CA7183380 rs757326651 |
566 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1385758500 CA389685692 |
566 | V>I | No |
ClinGen gnomAD |
|
|
CA7183379 COSM1370049 rs753383533 |
567 | Q>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA389685658 rs1421459275 |
568 | V>M | No |
ClinGen gnomAD |
|
|
rs763742821 CA7183378 |
570 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183375 rs767097617 |
575 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7183373 rs774646420 |
576 | R>* | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7183372 rs267604000 |
576 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368171220 CA7183368 |
577 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7183369 rs769828170 |
577 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7183367 rs776859178 |
578 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs768769678 CA7183366 |
579 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183365 rs745667858 |
580 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389685432 rs1365728829 |
580 | N>S | No |
ClinGen gnomAD |
|
|
rs191318538 CA389685351 CA7183364 |
583 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1414746738 CA389685312 |
585 | I>M | No |
ClinGen gnomAD |
|
|
CA389685298 rs144989341 |
586 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149923860 CA7183361 |
587 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs939591625 CA260822794 |
588 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs972527613 CA260822780 |
589 | N>K | No |
ClinGen Ensembl |
|
|
CA7183360 rs562250944 |
590 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA389685222 rs562250944 |
590 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389685152 rs1363471251 |
590 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs774254466 CA7183347 |
591 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA389685100 rs1596033476 |
593 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 597 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260822680 rs200236273 |
599 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389684979 rs1183582256 |
599 | F>L | No |
ClinGen gnomAD |
|
|
CA389684964 rs770807009 |
600 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183345 rs770807009 |
600 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260822672 COSM1370048 rs889803313 |
601 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA389684932 rs1170721140 |
602 | R>S | No |
ClinGen TOPMed |
|
|
rs1323759291 CA389684918 |
603 | T>I | No |
ClinGen gnomAD |
|
|
rs749116731 CA7183344 |
605 | I>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000523382 rs760913598 |
606 | I>missing | No |
ClinVar dbSNP |
|
|
CA7183343 rs777794623 |
606 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs563548539 CA7183341 |
606 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7183342 rs563548539 |
606 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389684880 rs777794623 |
606 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7183338 rs754629447 |
607 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183339 rs754629447 |
607 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751175089 CA7183337 |
608 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183309 rs767847163 |
611 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183308 rs572034540 |
611 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389683869 rs1195798248 |
612 | P>L | No |
ClinGen gnomAD |
|
|
CA7183307 rs773030482 |
613 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7183306 rs764902635 |
614 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7183304 rs776377597 |
616 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA7183305 rs761692623 |
616 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260822520 rs866712460 |
617 | A>T | No |
ClinGen Ensembl |
|
|
rs1210416071 CA389683757 |
617 | A>V | No |
ClinGen gnomAD |
|
|
CA260822519 rs961229135 |
619 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7183302 rs763070081 |
620 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768588903 CA7183303 |
620 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA389683667 rs1451503396 |
621 | I>M | No |
ClinGen TOPMed |
|
|
CA7183301 rs775043812 |
621 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs147839939 CA7183300 |
623 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7183298 rs778655876 |
627 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA389683567 rs1323288836 |
627 | V>L | No |
ClinGen TOPMed |
|
|
CA389683533 rs1064796663 |
629 | D>N | No |
ClinGen TOPMed |
|
|
CA16619871 rs1064796663 RCV000485266 |
629 | D>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA389683483 rs1596033240 |
631 | V>G | No |
ClinGen Ensembl |
|
|
rs1351373017 CA389683496 |
631 | V>M | No |
ClinGen TOPMed |
|
|
CA260822496 rs561786655 |
632 | N>K | No |
ClinGen Ensembl |
|
|
CA7183294 rs555470884 |
633 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755141133 CA389683437 CA7183292 |
634 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389683444 rs1423854394 |
634 | D>G | No |
ClinGen gnomAD |
|
|
rs35026927 CA7183293 |
634 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA260822467 rs765369546 |
636 | M>V | No |
ClinGen gnomAD |
|
|
rs751685523 CA7183291 |
638 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7183289 rs556404496 |
642 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1566500885 CA613881866 |
649 | Y>* | No |
ClinGen Ensembl |
|
|
CA389683070 rs1566500880 |
650 | R>I | No |
ClinGen Ensembl |
|
|
CA7183285 CA389683066 rs771526986 |
650 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 653 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528040841 CA260822415 |
655 | E>D | No |
ClinGen Ensembl |
|
|
rs370033969 CA7183283 |
655 | E>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA389682978 rs1403296600 |
656 | K>N | No |
ClinGen TOPMed |
|
|
CA389682765 rs1405242989 |
658 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 658 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260821642 rs375273829 |
660 | A>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA260821648 rs375273829 |
660 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7183257 rs142483613 |
661 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA260821635 rs901836262 |
662 | D>H | No |
ClinGen TOPMed |
|
|
rs901836262 CA389682731 |
662 | D>N | No |
ClinGen TOPMed |
|
|
CA7183256 rs781735641 |
665 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7183254 rs747042783 |
666 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7183253 rs780227240 |
668 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs531430985 CA7183252 |
669 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7183251 rs750621884 |
670 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA389682628 rs1241000496 |
672 | T>A | No |
ClinGen gnomAD |
|
|
CA389682623 rs1440589937 |
672 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 673 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248587372 CA389682605 |
674 | A>T | No |
ClinGen gnomAD |
|
|
CA7183247 rs113993986 |
675 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs772998983 | 677 | T>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765872937 CA7183244 |
678 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762261694 CA7183241 |
683 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA389682496 rs1437702150 |
683 | M>T | No |
ClinGen gnomAD |
|
|
CA7183240 rs777189835 |
684 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs149605106 CA7183239 |
685 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 686 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370959744 CA7183236 |
687 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7183237 rs560099818 |
687 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7183238 rs560099818 |
687 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138483823 CA7183235 |
688 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7183232 rs767156606 |
690 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757855680 CA7183227 |
694 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1452821947 CA389682378 |
694 | D>V | No |
ClinGen gnomAD |
|
|
CA389682364 rs1271836673 |
696 | A>T | No |
ClinGen TOPMed |
|
|
CA260821521 rs35831273 VAR_034426 |
698 | V>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA260821518 CA7183225 rs759518346 |
700 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389682299 rs1209273995 |
700 | M>V | No |
ClinGen TOPMed |
|
|
CA7183224 rs761603650 |
701 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA260821513 rs1049732247 |
702 | E>V | No |
ClinGen Ensembl |
|
|
rs374301747 CA260821508 |
703 | E>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1354034655 CA389682199 |
705 | G>E | No |
ClinGen gnomAD |
|
|
CA389682213 rs1450470452 |
705 | G>R | No |
ClinGen TOPMed |
|
|
rs368302349 CA7183223 |
707 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389682133 rs1408044729 |
708 | N>S | No |
ClinGen gnomAD |
|
|
rs1478045804 CA389682119 |
709 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 713 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194744206 CA389682049 |
713 | G>D | No |
ClinGen gnomAD |
|
|
CA7183221 rs776011553 |
714 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs922061385 CA260821476 |
715 | R>G | No |
ClinGen Ensembl |
|
|
rs1042210 CA260821461 VAR_013096 |
715 | R>S | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1266795527 CA389682021 |
715 | R>T | No |
ClinGen gnomAD |
|
|
CA389682004 rs1394584236 COSM956104 |
716 | I>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA260821455 rs975162854 |
716 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772464878 CA7183219 |
717 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1462621439 CA389681982 |
718 | D>A | No |
ClinGen TOPMed |
|
|
CA7183217 rs370338890 |
719 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs745945278 CA7183218 |
719 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771120156 CA7183216 |
720 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183214 rs777881295 |
721 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs777881295 CA7183215 |
721 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1596031599 CA389681934 |
722 | L>F | No |
ClinGen Ensembl |
|
|
CA389681921 rs1311856923 |
724 | K>R | No |
ClinGen gnomAD |
|
|
CA7183213 rs754743960 |
726 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765927476 CA7183212 |
726 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183181 rs756773559 |
727 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183182 rs745756440 |
727 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7183183 rs745756440 |
727 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs535447490 CA260820841 |
728 | E>K | No |
ClinGen gnomAD |
|
|
rs1183341513 CA389681316 |
730 | K>E | No |
ClinGen gnomAD |
|
|
rs753295015 CA260820832 |
731 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183178 rs777479533 |
731 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs753295015 CA7183179 |
731 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 731 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201878335 CA389681290 |
732 | Y>C | No |
ClinGen gnomAD |
|
|
rs753084823 CA7183176 |
733 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7183177 rs141992300 |
733 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1213077044 CA389681264 |
734 | E>D | No |
ClinGen gnomAD |
|
|
CA389681275 rs1478991792 |
734 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7183175 rs767910015 |
735 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389681239 rs759925909 |
737 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7183171 rs763014615 |
740 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244453742 CA389681184 |
742 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 743 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7183167 rs761979049 |
746 | I>M | No |
ClinGen ExAC |
|
|
rs770033505 CA7183168 |
746 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1287138291 CA389681126 |
747 | D>V | No |
ClinGen gnomAD |
|
|
rs1421644355 CA389681106 |
749 | G>S | No |
ClinGen gnomAD |
|
|
rs776940582 CA7183166 |
750 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA260820768 COSM106760 rs138864296 |
752 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA389681050 rs1443147154 |
753 | P>L | No |
ClinGen gnomAD |
|
|
CA389681043 rs1188687253 |
754 | K>R | No |
ClinGen gnomAD |
|
|
CA389681026 rs1260636606 |
756 | P>S | No |
ClinGen gnomAD |
|
|
rs1566499363 CA389681017 |
757 | D>V | No |
ClinGen Ensembl |
|
|
CA389680989 rs1274011794 |
761 | D>G | No |
ClinGen TOPMed |
|
|
rs778931967 CA7183163 |
761 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs771062204 CA7183162 |
762 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs926922260 CA260820724 |
762 | I>V | No |
ClinGen Ensembl |
|
|
rs748820167 CA7183161 |
763 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs755763202 CA7183158 |
764 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752252289 CA7183157 |
767 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs138807398 CA260820694 |
768 | Y>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA389680830 rs1173295278 |
772 | F>S | No |
ClinGen gnomAD |
|
|
rs769137914 CA7183139 |
773 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747697307 CA7183138 |
773 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA389680807 rs1596030430 |
774 | V>L | No |
ClinGen Ensembl |
|
|
TCGA novel CA7183137 rs780818141 |
775 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC |
|
rs1382166757 CA389680788 |
776 | A>T | No |
ClinGen TOPMed |
|
|
rs1296988355 CA389680768 |
777 | D>E | No |
ClinGen TOPMed |
|
|
rs747350501 CA7183135 |
779 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7183134 rs780433876 |
780 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389680737 rs1379294044 |
780 | A>T | No |
ClinGen gnomAD |
|
|
CA389680716 rs1437176824 |
781 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389680682 rs1236060619 CA389680683 |
783 | K>N | No |
ClinGen gnomAD |
|
|
CA7183133 rs758819348 |
784 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA389680654 rs1458348329 |
785 | Q>E | No |
ClinGen gnomAD |
|
|
rs750842470 CA7183132 |
786 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183129 rs754042361 |
789 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7183128 rs536358101 |
789 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389680545 rs536358101 |
789 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761029493 CA389680530 |
790 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183127 rs761029493 |
790 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774258465 CA7183126 |
790 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs766049593 CA7183125 |
791 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 793 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999255867 CA260818929 |
794 | N>K | No |
ClinGen Ensembl |
|
|
CA389679217 rs902208339 |
797 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA260818925 rs902208339 |
797 | A>T | No |
ClinGen TOPMed |
|
|
rs1176778530 CA389679212 |
798 | W>G | No |
ClinGen TOPMed |
|
|
CA7183105 rs141002397 |
801 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150228198 CA7183106 |
801 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389679059 rs1217915567 |
815 | D>G | No |
ClinGen gnomAD |
|
|
CA260818876 rs998126774 |
816 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA260818878 rs998126774 |
816 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs547527610 CA7183097 |
816 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754632862 CA260818856 |
817 | T>P | No |
ClinGen Ensembl |
|
|
CA260818852 rs1036900104 |
818 | I>V | No |
ClinGen TOPMed |
|
|
rs1380862449 CA389679020 |
819 | K>R | No |
ClinGen gnomAD |
|
|
rs1284467219 CA389679013 |
820 | E>K | No |
ClinGen gnomAD |
|
|
rs778449545 CA7183095 |
821 | Y>* | No |
ClinGen ExAC |
|
|
CA389678979 rs756205397 |
823 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389678952 rs1420162899 |
825 | I>V | No |
ClinGen gnomAD |
|
|
CA7183092 rs781257219 |
826 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs372046135 CA389678913 |
828 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372046135 CA260818828 |
828 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA389678891 rs1263526588 |
829 | E>D | No |
ClinGen TOPMed |
|
|
rs143556430 CA7183090 |
830 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368617216 CA260818817 |
832 | D>A | No |
ClinGen ESP TOPMed |
|
|
rs1265343182 CA389678813 |
834 | K>N | No |
ClinGen gnomAD |
|
|
rs1476971587 CA389678828 |
834 | K>Q | No |
ClinGen gnomAD |
|
|
rs939185054 CA260818811 |
836 | S>A | No |
ClinGen Ensembl |
|
|
CA389678783 rs765038633 |
836 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7183089 rs765038633 |
836 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389678763 rs1419703214 |
838 | S>Y | No |
ClinGen TOPMed |
|
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CA7183087 rs753712848 |
840 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
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CA389678676 rs1290132222 |
843 | K>N | No |
ClinGen gnomAD |
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COSM3361158 rs770316319 CA260818799 |
845 | N>H | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
1 associated diseases with P06737
[MIM: 232700]: Glycogen storage disease 6 (GSD6)
A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. {ECO:0000269|PubMed:9529348}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. {ECO:0000269|PubMed:9529348}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.1 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| AMP binding | Binding to AMP, adenosine monophosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| bile acid binding | Binding to a bile acid, a steroid carboxylic acids occurring in bile. |
| glucose binding | Binding to D- or L-enantiomers of glucose. |
| glycogen phosphorylase activity | Catalysis of the reaction: glycogen + phosphate = maltodextrin + alpha-D-glucose 1-phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| linear malto-oligosaccharide phosphorylase activity | Catalysis of the reaction: hydrogenphosphate + a linear malto-oligosaccharide = alpha-D-glucose 1-phosphate + a linear malto-oligosaccharide. |
| purine nucleobase binding | Binding to a purine nucleobase, an organic nitrogenous base with a purine skeleton. |
| pyridoxal phosphate binding | Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6. |
| SHG alpha-glucan phosphorylase activity | Catalysis of the reaction: hydrogenphosphate + a plant soluble heteroglycan = alpha-D-glucose 1-phosphate + a plant soluble heteroglycan. |
| vitamin binding | Binding to a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| 5-phosphoribose 1-diphosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of 5-phosphoribose 1-diphosphate, also known as 5-phosphoribosyl-1-pyrophosphate. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| glycogen catabolic process | The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. |
| glycogen metabolic process | The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. |
| necroptotic process | A programmed necrotic cell death process which begins when a cell receives a signal (e.g. a ligand binding to a death receptor or to a Toll-like receptor), and proceeds through a series of biochemical events (signaling pathways), characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death. The process ends when the cell has died. The process is divided into a signaling phase, and an execution phase, which is triggered by the former. |
| response to bacterium | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P06738 | GPH1 | Glycogen phosphorylase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q0VCM4 | PYGL | Glycogen phosphorylase, liver form | Bos taurus (Bovine) | PR |
| P11216 | PYGB | Glycogen phosphorylase, brain form | Homo sapiens (Human) | PR |
| P11217 | PYGM | Glycogen phosphorylase, muscle form | Homo sapiens (Human) | PR |
| Q8CI94 | Pygb | Glycogen phosphorylase, brain form | Mus musculus (Mouse) | PR |
| Q9WUB3 | Pygm | Glycogen phosphorylase, muscle form | Mus musculus (Mouse) | PR |
| Q9ET01 | Pygl | Glycogen phosphorylase, liver form | Mus musculus (Mouse) | PR |
| P04045 | Alpha-1,4 glucan phosphorylase L-1 isozyme, chloroplastic/amyloplastic | Solanum tuberosum (Potato) | PR | |
| P32811 | Alpha-glucan phosphorylase, H isozyme | Solanum tuberosum (Potato) | PR | |
| P53535 | STP-1 | Alpha-1,4 glucan phosphorylase L-2 isozyme, chloroplastic/amyloplastic | Solanum tuberosum (Potato) | PR |
| P09812 | Pygm | Glycogen phosphorylase, muscle form | Rattus norvegicus (Rat) | PR |
| P09811 | Pygl | Glycogen phosphorylase, liver form | Rattus norvegicus (Rat) | PR |
| Q9SD76 | PHS2 | Alpha-glucan phosphorylase 2, cytosolic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LIB2 | PHS1 | Alpha-glucan phosphorylase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKPLTDQEK | RRQISIRGIV | GVENVAELKK | SFNRHLHFTL | VKDRNVATTR | DYYFALAHTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RDHLVGRWIR | TQQHYYDKCP | KRVYYLSLEF | YMGRTLQNTM | INLGLQNACD | EAIYQLGLDI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EELEEIEEDA | GLGNGGLGRL | AACFLDSMAT | LGLAAYGYGI | RYEYGIFNQK | IRDGWQVEEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DDWLRYGNPW | EKSRPEFMLP | VHFYGKVEHT | NTGTKWIDTQ | VVLALPYDTP | VPGYMNNTVN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TMRLWSARAP | NDFNLRDFNV | GDYIQAVLDR | NLAENISRVL | YPNDNFFEGK | ELRLKQEYFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAATLQDIIR | RFKASKFGST | RGAGTVFDAF | PDQVAIQLND | THPALAIPEL | MRIFVDIEKL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PWSKAWELTQ | KTFAYTNHTV | LPEALERWPV | DLVEKLLPRH | LEIIYEINQK | HLDRIVALFP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KDVDRLRRMS | LIEEEGSKRI | NMAHLCIVGS | HAVNGVAKIH | SDIVKTKVFK | DFSELEPDKF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QNKTNGITPR | RWLLLCNPGL | AELIAEKIGE | DYVKDLSQLT | KLHSFLGDDV | FLRELAKVKQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ENKLKFSQFL | ETEYKVKINP | SSMFDVQVKR | IHEYKRQLLN | CLHVITMYNR | IKKDPKKLFV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PRTVIIGGKA | APGYHMAKMI | IKLITSVADV | VNNDPMVGSK | LKVIFLENYR | VSLAEKVIPA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TDLSEQISTA | GTEASGTGNM | KFMLNGALTI | GTMDGANVEM | AEEAGEENLF | IFGMRIDDVA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ALDKKGYEAK | EYYEALPELK | LVIDQIDNGF | FSPKQPDLFK | DIINMLFYHD | RFKVFADYEA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YVKCQDKVSQ | LYMNPKAWNT | MVLKNIAASG | KFSSDRTIKE | YAQNIWNVEP | SDLKISLSNE |
| SNKVNGN |