Q16816
PR
Gene name |
PHKG1 (PHKG) |
Protein name |
Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform |
Names |
PHK-gamma-M, Phosphorylase kinase subunit gamma-1, Serine/threonine-protein kinase PHKG1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5260 |
EC number |
2.7.11.1: 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
167-189 (Activation loop from InterPro)
Target domain |
20-288 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q16816
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16816-F1 | Predicted | AlphaFoldDB |
368 variants for Q16816
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA159022398 rs201064492 |
2 | T>I | No |
ClinGen Ensembl |
|
|
rs200186158 COSM1292532 CA367610002 |
3 | R>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4270444 rs200186158 |
3 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377635697 CA4270445 |
3 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 4 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4270441 rs761623899 |
5 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270442 rs761623899 |
5 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270440 rs776330890 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779315870 CA4270437 |
9 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367609961 rs1161887348 |
10 | S>A | No |
ClinGen gnomAD |
|
|
rs141311286 CA367609942 |
13 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141311286 CA4270435 |
13 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1584631710 CA367609936 |
14 | Q>* | No |
ClinGen Ensembl |
|
|
CA367609922 rs1175759870 |
16 | F>I | No |
ClinGen gnomAD |
|
|
rs777874777 CA4270434 |
16 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756184535 CA4270433 |
17 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367609902 rs1041542802 CA367609901 |
18 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs374228040 CA4270432 |
18 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA159022344 rs986374003 |
21 | E>K | No |
ClinGen Ensembl |
|
|
CA367609857 rs1262468575 |
24 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1216409394 CA367609838 |
27 | G>A | No |
ClinGen gnomAD |
|
|
rs571114908 COSM3366983 CA4270395 |
30 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA367609802 rs1259636855 |
31 | S>T | No |
ClinGen gnomAD |
|
|
rs140813887 CA4270394 |
32 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs369943156 CA159021688 |
32 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400128731 CA367609785 |
34 | V>L | No |
ClinGen TOPMed |
|
|
rs552608919 CA4270391 |
36 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs957497255 CA159021669 |
36 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763247159 CA4270390 |
37 | C>R | No |
ClinGen ExAC TOPMed |
|
|
rs773714411 CA159021648 |
38 | I>S | No |
ClinGen ExAC TOPMed |
|
|
CA4270389 rs773714411 |
38 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA367609733 rs573601674 |
42 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270387 rs573601674 |
42 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367609717 rs1280122630 |
44 | Q>H | No |
ClinGen TOPMed |
|
|
rs139265299 CA4270384 |
47 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA159021639 rs1012868660 |
47 | A>V | No |
ClinGen TOPMed |
|
|
COSM20465 VAR_040994 rs368370244 CA4270382 |
48 | V>M | large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1562880932 CA367609685 |
49 | K>M | No |
ClinGen Ensembl |
|
|
rs1398939012 CA367609681 |
50 | V>I | No |
ClinGen gnomAD |
|
|
CA4270380 rs374855407 |
52 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4270379 rs150831938 |
53 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753691031 CA4270378 |
54 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270375 rs200383111 |
55 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4270376 rs141566748 |
55 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763340575 CA4270373 |
56 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4270369 rs768793774 |
61 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4270367 rs146121774 |
61 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768793774 CA4270368 |
61 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA367609605 rs1337580984 |
62 | E>G | No |
ClinGen gnomAD |
|
|
CA367609597 rs1584629461 |
63 | E>G | No |
ClinGen Ensembl |
|
|
rs1584629454 CA367609588 |
64 | V>G | No |
ClinGen Ensembl |
|
|
rs199647333 CA4270364 |
65 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367609578 rs1258562932 |
66 | E>V | No |
ClinGen TOPMed |
|
|
COSM3382044 CA4270362 rs137913814 |
68 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4270361 rs749309116 |
68 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367609562 rs1199793792 |
69 | E>D | No |
ClinGen TOPMed |
|
|
CA4270360 rs777517621 |
69 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248564968 CA367609560 |
70 | A>T | No |
ClinGen TOPMed |
|
|
rs755657137 CA367609551 |
71 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755657137 CA4270359 |
71 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201068835 CA159021568 |
73 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 74 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 75 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584629384 CA367609524 |
75 | V>G | No |
ClinGen Ensembl |
|
|
rs780846650 CA4270357 |
77 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs754674836 CA4270356 |
79 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1451661 CA4270355 rs751207978 |
79 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762024241 CA4270353 |
81 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1169039458 CA367609486 |
82 | S>P | No |
ClinGen TOPMed |
|
|
CA4270352 rs754372415 |
83 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865853158 CA159021543 |
84 | H>P | No |
ClinGen TOPMed |
|
|
rs1263106883 CA367609474 |
84 | H>Y | No |
ClinGen gnomAD |
|
|
rs764465673 CA4270351 |
85 | P>S | No |
ClinGen ExAC |
|
|
rs1199242867 CA367609461 |
86 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367609456 rs1353006685 |
87 | I>V | No |
ClinGen gnomAD |
|
|
CA4270318 rs779776222 |
89 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270317 rs779776222 |
89 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270316 rs758032943 |
90 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270315 rs149238442 |
91 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270314 rs778062516 |
93 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4270313 rs756538374 |
93 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367609402 rs756538374 |
93 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4270312 rs749437917 |
94 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4270311 rs138370834 |
98 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562203433 CA4270310 |
100 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755143171 CA4270309 |
102 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270308 rs751546133 |
103 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs201721760 CA4270307 |
104 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201721760 CA4270306 |
104 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367609031 CA159019177 rs959247521 |
107 | M>I | No |
ClinGen gnomAD |
|
|
rs1359975408 CA367609033 |
107 | M>R | No |
ClinGen gnomAD |
|
|
CA367609020 rs1426799657 |
109 | R>K | No |
ClinGen gnomAD |
|
|
rs1386017002 CA367609012 |
110 | G>E | No |
ClinGen gnomAD |
|
|
rs1232203140 CA367609013 |
110 | G>R | No |
ClinGen TOPMed |
|
|
rs781720110 CA4270271 |
111 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139633155 CA159019162 |
113 | F>S | No |
ClinGen 1000Genomes |
|
|
CA159019157 rs780502081 |
114 | D>N | No |
ClinGen Ensembl |
|
|
rs758726946 CA159019156 |
114 | D>V | No |
ClinGen Ensembl |
|
|
CA367608979 rs769138362 |
115 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769138362 CA4270270 |
115 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769138362 CA367608980 |
115 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747529096 CA4270269 |
117 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367608965 rs1187036234 |
118 | E>K | No |
ClinGen gnomAD |
|
|
CA367608956 rs111589508 |
119 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs111589508 CA159019122 |
119 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1200024521 CA367608936 |
122 | L>* | No |
ClinGen TOPMed |
|
|
rs1260431238 CA367608932 |
122 | L>F | No |
ClinGen gnomAD |
|
|
CA367608927 rs1178308673 |
123 | S>T | No |
ClinGen gnomAD |
|
|
rs1456584561 CA367608900 |
126 | E>D | No |
ClinGen gnomAD |
|
|
rs1248592797 CA367608891 |
128 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367608856 rs1398089480 |
131 | M>T | No |
ClinGen gnomAD |
|
|
rs373657174 CA4270248 |
132 | R>* | No |
ClinGen ESP ExAC TOPMed |
|
|
CA159018868 rs373657174 |
132 | R>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4270247 COSM314131 rs746327103 |
132 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1250738848 CA367608809 |
139 | C>Y | No |
ClinGen gnomAD |
|
|
CA4270241 rs752492125 |
140 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4270242 rs752492125 |
140 | T>S | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1584622677 CA367608795 |
141 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs1256757429 CA367608791 |
142 | H>Y | No |
ClinGen gnomAD |
|
|
rs1206111609 CA367608775 |
144 | L>F | No |
ClinGen gnomAD |
|
|
rs1255499107 CA367608758 |
146 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs767197711 CA4270240 |
146 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs911041281 CA159018839 |
147 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757254297 CA4270238 |
148 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4270239 rs757254297 |
148 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766046891 COSM1090962 CA4270237 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA367608746 rs1310237471 |
149 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1396549390 CA367608727 |
152 | K>Q | No |
ClinGen gnomAD |
|
|
CA367608726 rs1401327813 |
152 | K>T | No |
ClinGen gnomAD |
|
|
CA4270236 rs539584077 |
153 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4270233 rs370010768 |
154 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764892940 CA4270234 |
154 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405111877 CA367608702 |
156 | I>F | No |
ClinGen Ensembl |
|
| TCGA novel | 157 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4270232 rs775962676 |
160 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270230 rs375748758 |
161 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4270231 rs375748758 |
161 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367608664 rs1189975809 |
161 | N>I | No |
ClinGen gnomAD |
|
|
CA4270229 rs774780130 |
162 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA367608641 rs1256011900 |
164 | I>T | No |
ClinGen gnomAD |
|
|
rs770999581 CA4270228 |
165 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs113579109 CA159018795 |
166 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA159018798 rs113579109 |
166 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA367608621 rs1562878026 |
167 | T>R | No |
ClinGen Ensembl |
|
|
rs1485272629 CA367608597 |
171 | F>L | No |
ClinGen TOPMed |
|
|
CA367608593 rs1287096715 |
171 | F>S | No |
ClinGen gnomAD |
|
|
CA367608567 rs1182632625 |
175 | L>V | No |
ClinGen TOPMed |
|
|
CA4270226 rs187745069 |
177 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4270227 rs187745069 |
177 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1332084369 CA367608542 |
179 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781108246 CA367608529 |
181 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367608526 rs1296982500 |
181 | L>P | No |
ClinGen gnomAD |
|
|
rs754716352 CA4270222 |
182 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751558671 CA4270221 |
182 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768578172 CA4270204 |
184 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA159018121 rs1049205825 |
185 | C>R | No |
ClinGen TOPMed |
|
|
CA367608488 rs1216299537 |
186 | G>A | No |
ClinGen gnomAD |
|
|
CA4270202 rs373763601 |
186 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270201 rs758449839 |
188 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs541582462 CA159018116 |
188 | P>T | No |
ClinGen 1000Genomes |
|
|
CA367608473 rs1275135815 |
189 | S>T | No |
ClinGen gnomAD |
|
|
rs1584619932 CA367608461 |
190 | Y>* | No |
ClinGen Ensembl |
|
|
CA4270198 rs192764931 |
192 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4270199 rs192764931 |
192 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750381091 COSM1496679 CA4270200 |
192 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA367608450 rs1237766258 |
193 | P>A | No |
ClinGen TOPMed |
|
|
rs147654051 CA4270196 |
194 | E>K | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA367608446 rs147654051 |
194 | E>Q | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA4270193 rs372681025 |
197 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA367608425 rs372681025 |
197 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA159018095 rs868769445 |
200 | M>T | No |
ClinGen Ensembl |
|
|
CA4270190 rs73126331 |
200 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375996951 CA4270189 |
201 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367608378 rs1584619802 |
203 | D>G | No |
ClinGen Ensembl |
|
|
rs1477842509 CA367608368 CA367608367 |
204 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1245157298 CA367608361 |
205 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376787464 CA4270188 |
206 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 206 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 207 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373557654 CA4270187 |
207 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270185 CA367608348 rs369323877 |
208 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4270184 rs375244738 |
210 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1370195548 CA367608316 |
212 | D>E | No |
ClinGen TOPMed |
|
|
CA4270152 rs757769249 CA159018014 |
213 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367608310 rs1449514032 |
213 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs375438215 CA4270151 |
214 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487771766 CA367608287 |
215 | S>G | No |
ClinGen gnomAD |
|
|
CA4270150 rs538193071 |
216 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs940268562 CA159018001 |
216 | T>I | No |
ClinGen TOPMed |
|
|
CA4270149 rs760767064 |
217 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141344297 CA4270146 |
218 | V>I | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs141344297 CA367608271 |
218 | V>L | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs377310121 CA4270143 |
219 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354043119 CA367608265 |
219 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759785327 CA367608256 |
220 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759785327 CA4270142 |
220 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367608259 rs1419212757 |
220 | M>V | No |
ClinGen TOPMed |
|
|
rs1206377809 CA367608246 |
221 | Y>* | No |
ClinGen Ensembl |
|
|
CA4270141 rs774056941 |
222 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA159017906 rs375990959 |
226 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs551840444 CA4270138 |
228 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780847047 CA4270135 |
229 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56053511 CA159017889 |
230 | F>L | No |
ClinGen Ensembl |
|
|
CA367608192 rs1562876699 |
231 | W>* | No |
ClinGen Ensembl |
|
|
CA4270133 rs746667766 |
232 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA4270134 rs754624575 |
232 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377598630 CA367608177 |
233 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377598630 CA4270132 |
233 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1315681709 CA367608180 |
233 | R>W | No |
ClinGen TOPMed |
|
|
CA367608142 rs1488571966 |
238 | M>T | No |
ClinGen gnomAD |
|
|
rs754396196 CA4270130 |
243 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367608107 rs757583640 |
243 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs757583640 CA4270131 |
243 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs757583640 CA367608106 |
243 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA159017883 rs372823387 |
243 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778380422 CA4270129 |
244 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746142464 CA159017872 |
244 | S>N | No |
ClinGen Ensembl |
|
|
CA159017859 rs756281200 |
244 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147684619 CA4270127 |
245 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142859782 CA4270126 |
248 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367608066 rs1173007645 |
249 | F>Y | No |
ClinGen gnomAD |
|
|
rs759747023 CA367608052 COSM1451660 |
251 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759747023 CA4270125 |
251 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs773165951 CA4270121 |
253 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270120 rs375001435 |
253 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367608036 rs1420860720 |
254 | W>* | No |
ClinGen gnomAD |
|
|
rs1584618824 CA367608037 |
254 | W>G | No |
ClinGen Ensembl |
|
|
CA367608027 rs1584618789 |
255 | D>G | No |
ClinGen Ensembl |
|
|
rs1177526183 CA367608028 |
255 | D>Y | No |
ClinGen gnomAD |
|
|
CA159017830 rs1024192978 |
256 | D>N | No |
ClinGen TOPMed |
|
|
rs148542905 CA4270116 |
258 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270114 rs779686431 |
259 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs149784104 CA4270112 |
261 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270109 rs200728838 |
263 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300811735 CA367607968 |
264 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4270077 rs779977158 |
265 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4270075 rs759279805 |
266 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270074 rs765029179 |
267 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756979048 CA4270073 |
267 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753750195 CA4270072 |
269 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA159017656 rs199932685 |
271 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4270071 rs199932685 |
271 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4270069 rs775103638 |
273 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767133278 CA4270068 |
274 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1401246822 CA367607866 |
275 | N>K | No |
ClinGen gnomAD |
|
|
rs545839626 CA4270067 |
276 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA159017636 rs751430603 |
276 | R>L | No |
ClinGen Ensembl |
|
|
CA4270066 rs12538444 |
277 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748484121 CA367607849 |
278 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4270064 rs748484121 |
278 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4270062 rs144361738 |
279 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs991383854 CA367607841 |
280 | E>* | No |
ClinGen TOPMed |
|
|
CA367607839 rs1276659011 |
280 | E>G | No |
ClinGen TOPMed |
|
|
rs991383854 CA159017603 |
280 | E>Q | No |
ClinGen TOPMed |
|
|
rs758414312 CA4270059 |
281 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478827561 CA367607834 |
281 | E>Q | No |
ClinGen gnomAD |
|
|
rs1192725633 CA367607823 |
282 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779067448 CA4270057 |
285 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201883624 CA4270056 |
286 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270055 rs201883624 |
286 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139718491 CA159017565 |
288 | F>L | No |
ClinGen ESP gnomAD |
|
|
CA4270054 rs763763410 |
292 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA367607752 rs1213424199 |
293 | V>M | No |
ClinGen TOPMed |
|
|
rs371768926 CA4270052 |
295 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs961824226 CA159017557 |
295 | E>A | No |
ClinGen TOPMed |
|
|
CA159017551 rs1014594114 |
295 | E>D | No |
ClinGen TOPMed |
|
|
rs1471857825 CA367607733 |
296 | V>M | No |
ClinGen TOPMed |
|
|
CA4270050 rs141196426 |
297 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270051 COSM1220412 rs767151786 |
297 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774182485 CA4270049 |
300 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs762492215 CA4270046 |
302 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs201025938 CA4270048 |
302 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890097585 CA159017515 CA367607692 |
303 | G>R | No |
ClinGen TOPMed |
|
|
CA4270045 rs768900651 |
304 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367607683 rs1163392255 |
304 | K>R | No |
ClinGen gnomAD |
|
|
CA4270043 rs575074725 |
306 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368535896 CA367607641 |
308 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148231327 CA4270020 |
309 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1090959 CA367607639 rs148231327 |
309 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4270018 rs201221003 |
312 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747903197 CA4270017 |
313 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270016 rs781116962 |
315 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA367607601 rs1562875685 |
316 | V>E | No |
ClinGen Ensembl |
|
|
rs199541903 CA4270013 |
317 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199541903 CA4270012 |
317 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4270014 rs751540733 |
317 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4270011 rs750119696 |
318 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764743460 CA4270010 |
320 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367607579 rs764743460 |
320 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367607564 rs1584616539 |
322 | Y>S | No |
ClinGen Ensembl |
|
|
VAR_040995 CA4270008 rs149458708 |
323 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs371433601 CA4270007 |
323 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367607556 rs371433601 |
323 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270005 rs138170417 |
324 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4270006 rs534256515 |
324 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773505491 CA4270002 |
326 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs566122392 CA4270001 |
327 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1317892595 CA367607523 |
329 | T>I | No |
ClinGen gnomAD |
|
|
rs147014225 CA4269998 |
330 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4269999 rs776637838 |
330 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414225480 CA367607516 |
331 | E>G | No |
ClinGen gnomAD |
|
|
CA4269997 rs141468325 |
331 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368804267 CA4269995 |
332 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4269996 rs779813404 |
332 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753474163 CA4269991 |
333 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4269992 rs753474163 |
333 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4269989 rs767879469 |
334 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1562875550 CA367607502 |
334 | I>V | No |
ClinGen Ensembl |
|
|
CA4269988 rs368652644 |
335 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407042813 CA367607495 |
335 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs375616345 CA159017180 |
338 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1473920730 CA367607466 |
340 | L>F | No |
ClinGen gnomAD |
|
|
rs763494578 CA4269984 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377647499 CA4269985 |
341 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773209917 CA4269983 |
343 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765359269 CA4269982 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1584616279 CA367607445 |
344 | R>H | No |
ClinGen Ensembl |
|
|
rs373447305 CA159017163 |
345 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4269980 rs373447305 |
345 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200414353 CA4269981 |
345 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1375360911 CA367607438 |
346 | L>F | No |
ClinGen TOPMed |
|
|
rs1446764109 CA367607435 |
346 | L>R | No |
ClinGen TOPMed |
|
|
CA4269978 rs768600789 |
348 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4269975 rs758309865 |
349 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4269976 rs775329257 |
349 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758309865 CA159017154 |
349 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753717343 CA4269971 |
350 | Y>* | No |
ClinGen ExAC |
|
|
CA4269973 rs778344494 |
350 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4269970 rs200148808 |
351 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4269968 rs755358755 |
352 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA367607397 rs1425155184 |
353 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367607396 rs182098876 |
353 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4269967 rs182098876 |
353 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758898342 CA4269965 |
357 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1185186306 CA367607362 |
358 | W>* | No |
ClinGen gnomAD |
|
|
rs967624230 CA159017123 |
358 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4269963 rs765248481 |
359 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367607356 rs765248481 |
359 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4269964 rs750931824 |
359 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764456478 CA367607349 CA4269961 |
360 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4269962 rs761942701 |
360 | K>R | No |
ClinGen ExAC |
|
|
rs1562875302 CA367607336 |
362 | G>E | No |
ClinGen Ensembl |
|
|
CA4269957 rs771887282 |
363 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4269956 rs759404219 |
364 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367607311 rs1220800837 |
366 | N>D | No |
ClinGen gnomAD |
|
|
rs372047445 CA4269954 |
367 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4269955 rs774276446 |
367 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4269953 rs748748925 |
368 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4269951 rs769476293 |
372 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367607268 rs1475433183 |
373 | N>D | No |
ClinGen Ensembl |
|
|
CA4269950 rs55793118 |
373 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1371056587 CA367607243 |
376 | K>N | No |
ClinGen gnomAD |
|
|
CA4269948 rs375841179 COSM1451658 |
378 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4269947 rs151274553 |
379 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779509806 CA4269946 |
381 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs141230469 CA367607203 |
384 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141230469 CA4269944 |
384 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4269942 rs760862823 |
386 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4269943 rs764260559 |
386 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367607182 rs1209849872 |
387 | Y>H | No |
ClinGen TOPMed |
|
|
rs1584615718 CA367607169 |
388 | Y>W | No |
ClinGen Ensembl |
4 associated diseases with Q16816
[MIM: 606579]: Vitiligo-associated multiple autoimmune disease 1 (VAMAS1)
A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 615225]: Palmoplantar carcinoma, multiple self-healing (MSPC)
An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617388]: Autoinflammation with arthritis and dyskeratosis (AIADK)
A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.
[MIM: 618803]: Respiratory papillomatosis, juvenile recurrent, congenital (JRRP)
An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.
- An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.
10 regional properties for Q16816
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CARD domain | 1380 - 1463 | IPR001315 |
| repeat | Leucine-rich repeat | 809 - 830 | IPR001611-1 |
| repeat | Leucine-rich repeat | 864 - 886 | IPR001611-2 |
| repeat | Leucine-rich repeat | 921 - 943 | IPR001611-3 |
| domain | DAPIN domain | 1 - 92 | IPR004020 |
| domain | NACHT nucleoside triphosphatase | 328 - 637 | IPR007111 |
| domain | FIIND domain | 1079 - 1364 | IPR025307 |
| domain | CARD8/ASC/NALP1, CARD domain | 1380 - 1460 | IPR033516 |
| domain | NOD2, winged helix domain | 567 - 613 | IPR041075 |
| domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | 623 - 733 | IPR041267 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | 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 kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| tau-protein kinase activity | Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| 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. |
| 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 |
| P15735 | PHKG2 | Phosphorylase b kinase gamma catalytic chain, liver/testis 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 |
| Q9DB30 | Phkg2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Mus musculus (Mouse) | PR |
| P07934 | Phkg1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Mus musculus (Mouse) | SS |
| P31325 | Phkg2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Rattus norvegicus (Rat) | PR |
| P13286 | Phkg1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTRDEALPDS | HSAQDFYENY | EPKEILGRGV | SSVVRRCIHK | PTSQEYAVKV | IDVTGGGSFS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEEVRELREA | TLKEVDILRK | VSGHPNIIQL | KDTYETNTFF | FLVFDLMKRG | ELFDYLTEKV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLSEKETRKI | MRALLEVICT | LHKLNIVHRD | LKPENILLDD | NMNIKLTDFG | FSCQLEPGER |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LREVCGTPSY | LAPEIIECSM | NEDHPGYGKE | VDMWSTGVIM | YTLLAGSPPF | WHRKQMLMLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MIMSGNYQFG | SPEWDDYSDT | VKDLVSRFLV | VQPQNRYTAE | EALAHPFFQQ | YLVEEVRHFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PRGKFKVIAL | TVLASVRIYY | QYRRVKPVTR | EIVIRDPYAL | RPLRRLIDAY | AFRIYGHWVK |
| 370 | 380 | ||||
| KGQQQNRAAL | FENTPKAVLL | SLAEEDY |