P15735
PR
Gene name |
PHKG2 |
Protein name |
Phosphorylase b kinase gamma catalytic chain, liver/testis isoform |
Names |
PHK-gamma-LT, PHK-gamma-T, PSK-C3, Phosphorylase kinase subunit gamma-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5261 |
EC number |
2.7.11.19: Protein-serine/threonine kinases |
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
170-192 (Activation loop from InterPro)
Target domain |
24-291 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
2 structures for P15735
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2Y7J | X-ray | 250 A | A/B/C/D | 6-293 | PDB |
| AF-P15735-F1 | Predicted | AlphaFoldDB |
372 variants for P15735
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs375063162 RCV001218555 CA280531872 |
8 | E>* | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000801374 CA395651138 rs1596677187 |
24 | Y>C | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000355100 RCV001850690 rs777228104 CA8013022 |
28 | D>V | Glycogen phosphorylase kinase deficiency Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213407 CA8013040 rs202177461 |
43 | H>Y | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000014598 RCV000593411 CA123299 rs137853590 |
44 | R>* | Glycogen storage disease ixc (gsd9c) Variant assessed as Somatic; 0.0 impact. Glycogen storage disease IXc [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs373915359 CA8013042 RCV001119848 |
47 | G>S | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218554 rs2053338364 |
53 | K>missing | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647367 CA8013056 rs753644625 |
72 | E>K | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000707610 COSM969958 rs538127151 CA8013057 |
75 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium Glycogen storage disease IXc [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002534691 CA8013058 rs138299462 RCV000801920 |
76 | R>Q | Glycogen storage disease IXc Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2053339231 RCV001293804 |
77 | E>K | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820028 rs779594016 CA8013061 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease IXc [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1567260747 RCV000686201 |
84 | V>missing | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
rs535265672 RCV000647368 COSM169621 CA8013064 RCV002261154 |
85 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine Glycogen storage disease IXc [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002511003 rs143983247 CA8013066 RCV000962410 |
86 | G>S | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1596680941 RCV000014599 |
93 | L>missing | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647370 rs1555467052 |
106 | V>* | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000014597 rs137853589 VAR_009517 CA123298 |
106 | V>E | Glycogen storage disease ixc (gsd9c) Glycogen storage disease IXc GSD9C [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1567261889 CA395656318 RCV001236888 |
144 | L>P | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA123301 rs137853591 RCV000014600 |
145 | H>Y | Glycogen storage disease ixc (gsd9c) Glycogen storage disease IXc [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000290732 rs886051911 CA10643466 |
150 | V>M | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772912966 CA8013184 RCV001250205 |
152 | R>* | Glycogen storage disease type IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM185088 rs752961445 RCV000761513 VAR_020854 CA8013187 |
157 | E>K | Glycogen storage disease ixc (gsd9c) large_intestine Glycogen storage disease IXc GSD9C [Ensembl, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2053379013 RCV001293805 |
180 | P>missing | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216913 rs2053379091 |
181 | G>S | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700365 CA395657229 rs1270523244 COSM1220413 RCV001250204 |
185 | R>* | large_intestine Glycogen storage disease IXc Glycogen storage disease type IXc [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA123297 RCV000014596 rs137853588 VAR_009518 |
189 | G>E | Glycogen storage disease ixc (gsd9c) Glycogen storage disease IXc GSD9C [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA8013247 rs192866993 RCV001115260 |
203 | M>T | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs767427889 VAR_020855 RCV001553756 CA8013255 RCV001293806 |
215 | D>N | Glycogen storage disease IXc GSD9C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2053424230 RCV001334369 |
216 | L>I | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596687555 RCV000989594 |
219 | C>missing | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596687577 RCV000856690 CA395658625 |
221 | V>M | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA658798589 rs1555467557 RCV000647369 |
224 | F>* | Glycogen storage disease ixc (gsd9c) Glycogen storage disease IXc [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853592 CA123304 RCV000014601 |
226 | L>R | Glycogen storage disease ixc (gsd9c) Glycogen storage disease IXc [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053428286 RCV001225980 |
249 | Q>* | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856689 rs1372753669 |
262 | S>missing | Glycogen storage disease IXc [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699025 CA8013329 rs780358808 |
303 | T>A | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000792911 rs781099286 CA8013331 |
304 | P>H | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8013339 rs145390070 RCV000694772 |
307 | R>Q | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000239479 RCV002519869 rs572115942 CA8013342 COSM703248 RCV000255740 |
309 | R>Q | lung Mauriac syndrome Glycogen storage disease IXc [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001042476 CA8013366 rs560414449 |
320 | R>* | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8013367 rs756345604 RCV001034857 |
320 | R>Q | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease IXc [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001331140 RCV002546449 CA8013375 rs367711698 |
329 | R>W | Glycogen storage disease IXc Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8013388 rs564686049 RCV001219187 |
344 | R>W | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs151033581 RCV001755861 RCV000535155 CA8013396 |
351 | D>N | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001115261 rs746361026 CA8013398 |
352 | N>D | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762089284 RCV000989595 CA8013404 |
357 | L>P | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000282766 CA10637604 rs886051914 |
394 | A>T | Glycogen storage disease IXc [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8013427 RCV001247940 rs141025408 RCV002570363 |
395 | A>V | Glycogen storage disease IXc Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs565389823 CA395650618 |
4 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1166994744 CA395650620 |
5 | V>M | No |
ClinGen gnomAD |
|
|
CA395650653 rs1352523766 |
6 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA395650681 rs1596677101 |
8 | E>A | No |
ClinGen Ensembl |
|
|
rs1389929145 CA395650692 |
9 | D>N | No |
ClinGen gnomAD |
|
|
rs1196253974 CA395650736 |
10 | E>D | No |
ClinGen TOPMed |
|
|
CA280531873 rs1032047144 |
13 | D>E | No |
ClinGen TOPMed |
|
|
CA280531874 rs956934807 |
14 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1227169438 CA395650846 |
15 | A>T | No |
ClinGen gnomAD |
|
|
CA395650854 rs1295007085 |
15 | A>V | No |
ClinGen gnomAD |
|
|
rs1245997052 CA395650869 |
16 | A>S | No |
ClinGen gnomAD |
|
|
CA395650913 rs1341739684 |
16 | A>V | No |
ClinGen TOPMed |
|
|
CA395650995 rs1211196259 |
19 | E>G | No |
ClinGen gnomAD |
|
|
rs1464541784 CA395651050 |
21 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395651095 rs1329660928 |
22 | Q>R | No |
ClinGen TOPMed |
|
|
CA8013021 rs769648334 |
23 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA395651148 rs1425262311 |
25 | D>N | No |
ClinGen gnomAD |
|
|
rs1367737087 CA395651176 |
26 | P>A | No |
ClinGen gnomAD |
|
|
CA395651207 rs1459802071 |
28 | D>N | No |
ClinGen gnomAD |
|
|
rs748940118 CA8013023 |
31 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448261212 CA395653037 |
34 | V>A | No |
ClinGen gnomAD |
|
|
CA395653031 rs1360459595 |
34 | V>L | No |
ClinGen gnomAD |
|
|
CA395653029 rs1360459595 |
34 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596680267 CA395653092 |
37 | V>G | No |
ClinGen Ensembl |
|
|
rs1353903670 CA395653094 |
38 | V>I | No |
ClinGen gnomAD |
|
|
rs1289451316 RCV001092093 CA395653108 |
39 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs373732367 COSM3690935 CA8013037 |
39 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1282082004 CA395653122 |
40 | R>C | No |
ClinGen TOPMed |
|
|
CA8013038 rs756077227 |
40 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756077227 CA280533805 |
40 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395653153 rs1195250419 |
42 | V>A | No |
ClinGen Ensembl |
|
|
rs777606340 CA8013039 |
42 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM969957 rs778737777 CA8013041 |
44 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395653203 rs1484543037 |
46 | T>S | No |
ClinGen gnomAD |
|
|
rs202145162 CA395653220 |
48 | H>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs202145162 CA280533855 |
48 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8013044 rs776935753 |
49 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395653253 rs770253840 |
51 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1679023 CA8013046 rs770253840 |
51 | A>V | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199854449 CA280533902 |
54 | I>M | No |
ClinGen Ensembl |
|
|
rs1431951024 CA395653287 |
54 | I>V | No |
ClinGen gnomAD |
|
|
CA8013049 rs766541878 |
57 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766541878 CA395653336 |
57 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013051 rs144930894 |
59 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147950160 CA280533918 |
61 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201199884 CA8013052 |
61 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395653489 rs1299395437 |
67 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1206225038 CA395653506 |
69 | E>K | No |
ClinGen gnomAD |
|
|
rs1596680453 CA395653530 |
70 | V>G | No |
ClinGen Ensembl |
|
|
CA280533944 rs936824479 |
70 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8013055 rs777894749 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756052327 CA8013054 COSM284000 |
71 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA395653548 rs1478032230 |
72 | E>G | No |
ClinGen gnomAD |
|
|
rs867165090 CA280533997 |
75 | R>W | No |
ClinGen gnomAD |
|
|
CA395653588 rs1450937339 |
76 | R>* | Glycogen storage disease ixc (gsd9c) [Ensembl] | No |
ClinGen gnomAD |
|
CA395653586 rs1450937339 |
76 | R>G | Glycogen storage disease ixc (gsd9c) [Ensembl] | No |
ClinGen gnomAD |
|
rs745537506 CA8013059 |
78 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395653609 rs1383312036 |
79 | H>Q | No |
ClinGen TOPMed |
|
|
CA8013060 rs758053261 |
79 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA395653621 rs1326059459 |
81 | L>I | No |
ClinGen gnomAD |
|
|
CA8013062 rs746541930 |
82 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 85 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535265672 CA395653689 |
85 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA280534055 rs899014984 |
89 | H>D | No |
ClinGen gnomAD |
|
|
CA395653792 rs1157083366 |
90 | I>V | No |
ClinGen TOPMed |
|
|
CA395654088 rs1182139735 |
95 | D>N | No |
ClinGen gnomAD |
|
|
CA395654142 rs1362112001 |
96 | S>C | No |
ClinGen gnomAD |
|
|
rs757735184 CA8013104 |
97 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746197626 CA8013106 |
98 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746197626 CA280534396 |
98 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8013107 rs564053771 |
100 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395654235 rs1310830272 |
100 | S>P | No |
ClinGen gnomAD |
|
|
CA395654252 rs1410337149 |
101 | S>R | No |
ClinGen gnomAD |
|
|
CA395654284 rs1333437582 |
102 | F>L | No |
ClinGen gnomAD |
|
|
rs1234792614 CA395654319 |
103 | M>T | No |
ClinGen gnomAD |
|
|
CA395654385 rs1346689363 |
106 | V>L | No |
ClinGen gnomAD |
|
|
CA280537141 rs1020156539 |
111 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8013136 rs773982918 |
111 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs759361949 CA8013137 |
114 | E>D | No |
ClinGen ExAC |
|
|
CA395655659 rs1485664175 |
114 | E>V | No |
ClinGen gnomAD |
|
|
CA395655672 rs1362819804 |
115 | L>M | No |
ClinGen TOPMed |
|
|
rs1157439786 CA395655677 |
115 | L>Q | No |
ClinGen TOPMed |
|
|
rs767112052 CA8013138 |
116 | F>L | No |
ClinGen ExAC |
|
|
CA8013139 rs752363595 |
117 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8013140 rs370423261 |
118 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8013144 rs766949870 |
121 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395655814 rs1459362755 |
122 | K>R | No |
ClinGen gnomAD |
|
|
rs555472522 CA8013145 |
124 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555472522 CA8013146 |
124 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1159306345 CA395655841 |
124 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA280537243 rs1042747324 |
126 | S>F | No |
ClinGen TOPMed |
|
|
CA395655892 rs1567261786 |
127 | E>K | No |
ClinGen Ensembl |
|
|
rs201659307 CA8013148 |
128 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1286782051 CA395655917 |
128 | K>R | No |
ClinGen gnomAD |
|
|
rs1596683043 CA395655972 |
130 | T>I | No |
ClinGen Ensembl |
|
|
rs1283618034 CA395655993 |
131 | R>T | No |
ClinGen TOPMed |
|
|
rs578228524 CA8013175 |
134 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1354402494 CA395656122 |
134 | M>T | No |
ClinGen TOPMed |
|
|
CA8013176 rs578228524 |
134 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395656156 rs775246080 |
135 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013178 rs775246080 |
135 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013177 rs148036324 |
135 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395656202 rs1174960981 |
139 | E>K | No |
ClinGen gnomAD |
|
|
CA395656227 rs1426745512 |
140 | A>T | No |
ClinGen gnomAD |
|
|
rs375764924 CA8013179 |
141 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8013181 rs776358711 |
142 | S>I | No |
ClinGen ExAC TOPMed |
|
|
CA395656355 rs1567261900 |
146 | A>V | No |
ClinGen Ensembl |
|
|
CA280537443 rs774068311 |
147 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8013183 rs764834643 |
147 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440723288 CA395656482 COSM1377490 |
152 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs760096451 CA8013185 |
153 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395656584 rs1567261924 |
157 | E>A | No |
ClinGen Ensembl |
|
|
rs1596683283 CA395656623 |
158 | N>D | No |
ClinGen Ensembl |
|
|
rs138740083 CA395656770 |
163 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8013190 rs545582783 |
164 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146181866 CA8013191 |
165 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395656812 rs1478259452 |
165 | M>R | No |
ClinGen TOPMed |
|
|
rs1196748987 CA395656844 |
166 | Q>E | No |
ClinGen TOPMed |
|
|
rs757490714 CA8013192 |
166 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs778952896 CA8013193 |
168 | R>* | Glycogen storage disease ixc (gsd9c) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395656934 rs1199310773 |
170 | S>* | No |
ClinGen TOPMed |
|
|
rs750553595 CA8013194 |
170 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 171 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8013196 rs779998350 |
173 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779998350 CA8013197 |
173 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA8013200 rs780913532 |
175 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs45612445 CA8013201 |
177 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8013202 rs139116127 |
177 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs45612445 CA395657075 |
177 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368904522 CA8013203 |
179 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8013204 rs762578361 |
180 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395657175 rs1367605312 |
182 | E>K | No |
ClinGen gnomAD |
|
|
rs1397469314 CA395657211 |
183 | K>N | No |
ClinGen TOPMed |
|
|
rs61733974 CA280537725 |
185 | R>L | No |
ClinGen ESP TOPMed |
|
|
CA280537724 rs61733974 |
185 | R>Q | No |
ClinGen ESP TOPMed |
|
|
rs777504531 CA8013241 |
193 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA280540183 rs1053885152 |
195 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395658341 rs1442454879 |
199 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs757031236 CA8013243 |
200 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745412396 CA8013245 |
202 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs769168117 CA8013246 |
203 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770138890 CA8013249 |
206 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770138890 CA395658427 |
206 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013252 rs766548642 |
207 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA8013251 rs763137737 |
207 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA395658478 rs774446283 |
213 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395658587 rs1293985479 |
217 | W>S | No |
ClinGen gnomAD |
|
|
CA280540409 rs189032780 |
219 | C>S | No |
ClinGen 1000Genomes |
|
|
CA280540410 rs983083216 |
220 | G>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 222 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280540414 rs956464925 |
222 | I>M | No |
ClinGen Ensembl |
|
|
rs1030834551 CA280540412 |
222 | I>T | No |
ClinGen gnomAD |
|
|
rs775063859 CA280540416 |
223 | L>* | No |
ClinGen Ensembl |
|
|
CA395658662 rs1292727809 |
224 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395658660 rs1292727809 |
224 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1332796630 CA395658677 |
225 | T>I | No |
ClinGen gnomAD |
|
|
CA8013274 rs760671224 |
226 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA395658692 rs1486041167 |
228 | A>P | No |
ClinGen gnomAD |
|
|
CA8013275 rs764170465 |
230 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1188632240 CA395658736 |
233 | F>V | No |
ClinGen gnomAD |
|
|
CA8013277 rs761535736 |
235 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA395658765 rs761535736 |
235 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs143915773 CA280540470 |
236 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA280540459 rs370052455 |
236 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA395658780 rs1452675634 |
237 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8013278 rs374406482 |
237 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395658819 rs1312839644 |
241 | M>V | No |
ClinGen gnomAD |
|
|
CA8013281 rs779515173 |
243 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA280540534 rs777581985 |
243 | R>H | No |
ClinGen gnomAD |
|
|
rs1025073788 CA280540540 |
244 | M>K | No |
ClinGen gnomAD |
|
|
rs1025073788 CA395658851 |
244 | M>T | No |
ClinGen gnomAD |
|
|
CA280540552 rs577778473 |
246 | M>T | No |
ClinGen TOPMed |
|
|
CA8013282 rs751109671 |
246 | M>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_051658 CA280540563 rs34006569 |
247 | E>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA8013283 rs756572785 |
248 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237202978 CA395658946 |
252 | F>L | No |
ClinGen gnomAD |
|
|
CA8013285 rs368436227 |
253 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280540600 rs980763024 |
254 | S>F | No |
ClinGen gnomAD |
|
|
CA395658976 rs980763024 |
254 | S>Y | No |
ClinGen gnomAD |
|
|
CA8013288 rs779404778 |
255 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395659001 rs1344986535 |
256 | E>D | No |
ClinGen TOPMed |
|
|
CA8013290 rs772392144 |
256 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8013292 rs760869502 |
257 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs775683935 CA8013291 |
257 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA8013294 rs545313335 |
259 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395659033 rs1173501186 |
259 | D>Y | No |
ClinGen gnomAD |
|
|
rs148776797 CA280540672 |
260 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8013295 rs148776797 |
260 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395659047 rs1298783918 |
260 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8013296 rs144792786 COSM1262083 |
261 | S>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA395659064 rs1305934694 |
262 | S>N | No |
ClinGen gnomAD |
|
|
CA280540684 rs111883335 |
264 | V>A | No |
ClinGen Ensembl |
|
|
CA280540813 rs1000764019 |
273 | Q>R | No |
ClinGen Ensembl |
|
|
CA395659211 rs1596688053 |
274 | V>G | No |
ClinGen Ensembl |
|
|
CA8013315 rs748011645 |
275 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348395436 CA395659241 |
278 | A>S | No |
ClinGen TOPMed |
|
|
CA280540815 rs994896967 |
279 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395659250 rs994896967 |
279 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs568815926 CA8013316 |
280 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 282 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772842581 CA8013317 |
283 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395659297 rs1395363276 |
284 | Q>E | No |
ClinGen gnomAD |
|
|
rs767003992 COSM3948482 CA8013322 |
293 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8013323 rs200348735 |
293 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs892268724 CA280540914 |
294 | C>R | No |
ClinGen Ensembl |
|
|
rs765807785 CA8013325 |
297 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1208826696 CA395659473 |
299 | P>T | No |
ClinGen gnomAD |
|
|
CA395659493 rs1410139220 |
300 | W>* | No |
ClinGen TOPMed |
|
|
CA8013327 rs750705511 |
301 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013330 rs755298493 |
303 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013328 rs780358808 |
303 | T>P | No |
ClinGen ExAC TOPMed |
|
|
rs781099286 CA8013332 |
304 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781099286 CA395659536 |
304 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8013333 rs200288919 |
305 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200288919 CA8013334 |
305 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8013335 rs554920657 |
305 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA280540991 rs554920657 |
305 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774187799 CA395659555 |
306 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8013336 rs770705206 |
306 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8013338 rs759169790 |
307 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760257918 CA8013341 |
309 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1236941520 CA395659685 |
315 | V>M | No |
ClinGen gnomAD |
|
|
rs1052327123 CA280541152 |
316 | L>P | No |
ClinGen gnomAD |
|
|
rs759992249 CA8013364 VAR_040996 |
317 | A>T | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs767565421 CA8013365 |
317 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395659717 rs1236600351 |
321 | V>A | No |
ClinGen gnomAD |
|
|
CA395659719 rs1236600351 |
321 | V>G | No |
ClinGen gnomAD |
|
|
CA280541173 rs930832189 |
322 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395659724 rs930832189 |
322 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA280541181 rs1013386288 |
324 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395659740 rs753962410 |
325 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1596688664 CA395659737 |
325 | T>P | No |
ClinGen Ensembl |
|
|
rs753962410 CA8013369 |
325 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8013371 rs778847073 |
326 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8013370 rs757148929 |
326 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745609608 CA8013372 |
327 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013373 rs771905827 |
327 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA395659752 rs1442697421 |
328 | V>L | No |
ClinGen gnomAD |
|
|
rs200724536 CA8013377 |
329 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200724536 CA8013376 COSM969962 |
329 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA395659766 rs1231653163 |
331 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 332 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8013378 rs761428508 |
332 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1198077042 CA395659777 |
333 | K>E | No |
ClinGen gnomAD |
|
|
CA280541262 rs904981498 |
335 | A>E | No |
ClinGen TOPMed |
|
|
CA395659792 rs1360592708 |
335 | A>T | No |
ClinGen gnomAD |
|
|
rs904981498 CA395659795 |
335 | A>V | No |
ClinGen TOPMed |
|
|
CA395659797 rs1256315342 |
336 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs775002634 CA8013380 |
337 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775002634 CA395659805 |
337 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280541273 rs561316398 |
338 | R>G | No |
ClinGen gnomAD |
|
|
rs1196585914 CA395659811 |
338 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8013381 rs375944529 |
339 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1015896008 CA280541287 |
340 | P>L | No |
ClinGen Ensembl |
|
|
CA8013383 rs753049419 |
341 | Y>F | No |
ClinGen ExAC |
|
|
rs767906816 CA8013382 |
341 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8013385 rs764335210 |
342 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532137455 CA8013389 |
344 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8013392 rs746809628 |
347 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013391 rs779878553 |
347 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276363305 CA395659862 |
348 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1234089029 CA395659869 |
349 | L>F | No |
ClinGen gnomAD |
|
|
CA8013399 rs772493213 |
353 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs775887057 CA8013400 |
354 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395659909 rs1420779217 |
355 | F>I | No |
ClinGen gnomAD |
|
|
CA8013402 rs140913831 |
356 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395659915 rs776847234 |
356 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776847234 CA8013403 |
356 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140913831 CA8013401 |
356 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367521027 CA395659919 |
357 | L>F | No |
ClinGen gnomAD |
|
|
rs371346868 CA8013407 |
359 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766247639 CA8013408 |
360 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA395659943 rs1357374137 |
361 | W>R | No |
ClinGen gnomAD |
|
|
CA8013409 rs751308686 |
365 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280541365 CA395659973 rs556977075 |
365 | G>R | No |
ClinGen gnomAD |
|
|
CA395659987 rs1320107162 |
367 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8013410 rs754732907 |
369 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs747784842 CA395660009 |
370 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs747784842 CA8013412 |
370 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201376250 CA8013411 |
370 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8013413 rs755877198 |
371 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748777868 CA8013416 |
372 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA395660022 rs772584191 |
373 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8013417 rs772584191 |
373 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395660036 rs1169298072 |
375 | Q>* | No |
ClinGen TOPMed |
|
|
CA395660038 rs1180393390 |
375 | Q>R | No |
ClinGen gnomAD |
|
|
CA395660044 rs1408484712 |
376 | H>D | No |
ClinGen TOPMed |
|
|
rs925291187 CA280541452 |
377 | R>G | No |
ClinGen gnomAD |
|
|
CA8013418 rs550674389 |
377 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395660050 rs925291187 |
377 | R>W | No |
ClinGen gnomAD |
|
|
RCV000173672 rs794726977 CA239107 |
378 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 379 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280541495 rs1052358018 |
380 | G>A | No |
ClinGen Ensembl |
|
|
CA8013421 rs777039348 |
380 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA395660076 rs1157289801 |
382 | F>L | No |
ClinGen gnomAD |
|
|
CA280541497 rs920855301 |
383 | P>S | No |
ClinGen TOPMed |
|
|
rs765485631 CA8013423 |
385 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 386 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395660106 rs1377097368 |
386 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 387 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395660123 rs1413833897 |
389 | E>K | No |
ClinGen TOPMed |
|
|
rs762954272 CA8013425 |
390 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766271272 CA8013426 |
392 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA280541537 rs145746592 |
394 | A>G | No |
ClinGen ESP |
|
|
CA280541551 rs866682996 |
396 | I>K | No |
ClinGen Ensembl |
|
|
CA8013428 rs759599736 |
396 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767394756 CA395660175 |
397 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767394756 CA8013429 |
397 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777315776 CA8013432 |
402 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395660212 rs1468570075 |
403 | L>V | No |
ClinGen gnomAD |
|
|
rs1333886130 CA395660222 |
404 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395660218 rs1463326473 |
404 | V>L | No |
ClinGen TOPMed |
|
|
CA395660217 rs1463326473 |
404 | V>M | No |
ClinGen TOPMed |
|
|
CA395660241 rs1238421655 |
407 | G>Y | No |
ClinGen gnomAD |
1 associated diseases with P15735
[MIM: 613027]: Glycogen storage disease 9C (GSD9C)
A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. {ECO:0000269|PubMed:12930917, ECO:0000269|PubMed:8896567, ECO:0000269|PubMed:9245685}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. {ECO:0000269|PubMed:12930917, ECO:0000269|PubMed:8896567, ECO:0000269|PubMed:9245685}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.19 | Protein-serine/threonine kinases |
| 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. |
| phosphorylase kinase complex | An enzyme complex that catalyzes the phosphorylation of phosphorylase b to form phosphorylase a. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| phosphorylase kinase activity | Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| tau-protein kinase activity | Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| generation of precursor metabolites and energy | The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. |
| glycogen biosynthetic process | The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. |
| 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. |
| positive regulation of glycogen catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
19 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KJ16 | PHKG2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Bos taurus (Bovine) | PR |
| Q16816 | PHKG1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Homo sapiens (Human) | PR |
| Q13554 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Homo sapiens (Human) | EV |
| Q9UQM7 | CAMK2A | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Homo sapiens (Human) | EV |
| Q13555 | CAMK2G | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Homo sapiens (Human) | EV |
| Q13557 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Homo sapiens (Human) | EV |
| Q9H1R3 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Homo sapiens (Human) | EV |
| Q32MK0 | MYLK3 | Myosin light chain kinase 3 | Homo sapiens (Human) | SS |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| P07934 | Phkg1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Mus musculus (Mouse) | SS |
| Q9DB30 | Phkg2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Mus musculus (Mouse) | PR |
| P13286 | Phkg1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Rattus norvegicus (Rat) | SS |
| P31325 | Phkg2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLDVGPEDE | LPDWAAAKEF | YQKYDPKDVI | GRGVSSVVRR | CVHRATGHEF | AVKIMEVTAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLSPEQLEEV | REATRRETHI | LRQVAGHPHI | ITLIDSYESS | SFMFLVFDLM | RKGELFDYLT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKVALSEKET | RSIMRSLLEA | VSFLHANNIV | HRDLKPENIL | LDDNMQIRLS | DFGFSCHLEP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GEKLRELCGT | PGYLAPEILK | CSMDETHPGY | GKEVDLWACG | VILFTLLAGS | PPFWHRRQIL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MLRMIMEGQY | QFSSPEWDDR | SSTVKDLISR | LLQVDPEARL | TAEQALQHPF | FERCEGSQPW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NLTPRQRFRV | AVWTVLAAGR | VALSTHRVRP | LTKNALLRDP | YALRSVRHLI | DNCAFRLYGH |
| 370 | 380 | 390 | 400 | ||
| WVKKGEQQNR | AALFQHRPPG | PFPIMGPEEE | GDSAAITEDE | AVLVLG |