P19525
PR
Gene name |
EIF2AK2 (PKR, PRKR) |
Protein name |
Interferon-induced, double-stranded RNA-activated protein kinase |
Names |
Eukaryotic translation initiation factor 2-alpha kinase 2, eIF-2A protein kinase 2, Interferon-inducible RNA-dependent protein kinase, P1/eIF-2A protein kinase, Protein kinase RNA-activated, PKR, Protein kinase R, Tyrosine-protein kinase EIF2AK2, p68 kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5610 |
EC number |
2.7.10.2: Protein-tyrosine 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
431-453 (Activation loop from InterPro)
Target domain |
267-540 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
11 structures for P19525
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1QU6 | NMR | - | A | 1-170 | PDB |
| 2A19 | X-ray | 250 A | B/C | 258-550 | PDB |
| 2A1A | X-ray | 280 A | B | 258-550 | PDB |
| 3UIU | X-ray | 290 A | A/B | 254-551 | PDB |
| 6D3K | X-ray | 260 A | A/B/C | 229-551 | PDB |
| 6D3L | X-ray | 310 A | A | 229-551 | PDB |
| 7OBK | X-ray | 180 A | B | 541-551 | PDB |
| 7OBL | X-ray | 180 A | B | 541-551 | PDB |
| 8BI7 | X-ray | 140 A | B | 541-551 | PDB |
| 8I9J | EM | 639 A | A | 1-170 | PDB |
| AF-P19525-F1 | Predicted | AlphaFoldDB |
400 variants for P19525
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1363544084 RCV000991207 VAR_084260 CA346323328 RCV001093622 |
11 | M>L | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome LEUDEN; unknown pathological significance; reduced phosphorylation of eukaryotic translation initiation factor 2-alpha in patient cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar dbSNP gnomAD UniProt |
|
rs1675604381 VAR_084261 RCV001093626 |
32 | N>S | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome LEUDEN; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_086715 | 32 | N>T | DYT33; unknown pathological significance; gain-of-function variant resulting in increased levels of phosphorylated EIF2AK2 and EIF2A in patient cells compared to controls [UniProt] | Yes | UniProt |
|
RCV001281094 CA346320286 VAR_084262 RCV001004045 rs1573031939 |
97 | S>F | Global developmental delay Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome LEUDEN; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV003127630 rs1675334390 VAR_084263 RCV001093625 |
109 | A>S | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome LEUDEN; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001004044 RCV001281095 CA346319964 rs1573031858 VAR_084264 |
109 | A>V | Global developmental delay Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome LEUDEN; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
| VAR_086716 | 130 | G>R | DYT33; gain-of-function variant resulting in increased levels of phosphorylated EIF2AK2 and EIF2A in patient cells compared to controls [UniProt] | Yes | UniProt |
|
VAR_084266 RCV000991217 CA346318736 rs1573029592 RCV001093623 RCV001266299 |
133 | Y>F | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome Inborn genetic diseases LEUDEN; unknown pathological significance; reduced phosphorylation of eukaryotic translation initiation factor 2-alpha in patient cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
| VAR_086717 | 138 | G>A | DYT33; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA346307731 RCV001009329 rs1573010519 VAR_084267 RCV001281096 |
325 | G>S | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome Cognitive impairment LEUDEN; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
VAR_084268 RCV001009605 RCV001093624 rs1572996700 CA346297078 |
461 | S>C | Global developmental delay Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome LEUDEN; unknown pathological significance; reduced phosphorylation of eukaryotic translation initiation factor 2-alpha in patient cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA45467998 rs201448938 |
3 | G>S | No |
ClinGen Ensembl |
|
|
rs1160743323 CA346323418 |
4 | D>G | No |
ClinGen gnomAD |
|
|
rs750120308 CA1615440 |
5 | L>F | No |
ClinGen ExAC |
|
|
rs750120308 CA1615441 |
5 | L>V | No |
ClinGen ExAC |
|
|
CA1615439 rs778784418 |
6 | S>* | No |
ClinGen ExAC |
|
| TCGA novel | 9 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363544084 CA346323329 |
11 | M>V | No |
ClinGen gnomAD |
|
|
CA1615438 rs757095306 |
14 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346323275 rs1251339698 |
18 | R>C | No |
ClinGen gnomAD |
|
|
rs1193310225 CA346323274 |
18 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1615437 rs753806955 |
20 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346323253 rs1279805124 |
21 | Q>R | No |
ClinGen TOPMed |
|
|
CA346323245 COSM1725523 rs1286444509 |
22 | G>E | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs764131160 CA1615436 |
23 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346323240 rs1206749784 |
23 | V>L | No |
ClinGen gnomAD |
|
|
CA1615434 rs752907439 |
24 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1245925198 CA346323182 |
32 | N>D | No |
ClinGen gnomAD |
|
|
CA45467919 rs916987574 |
33 | S>* | No |
ClinGen Ensembl |
|
|
CA45467914 rs757582744 |
34 | G>R | No |
ClinGen Ensembl |
|
|
CA346323158 rs1480575725 |
36 | P>A | No |
ClinGen TOPMed |
|
|
CA1615431 rs774527920 |
37 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1319751461 CA346323136 |
39 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 40 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 41 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188490662 CA346323072 |
46 | I>R | No |
ClinGen gnomAD |
|
|
CA346323073 rs1188490662 |
46 | I>T | No |
ClinGen gnomAD |
|
|
rs1374847765 CA346323063 |
48 | D>N | No |
ClinGen TOPMed |
|
|
CA45467111 rs895797565 COSM3839476 |
54 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs745481985 CA1615406 |
55 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs745481985 CA45467081 |
55 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1274669139 CA346322999 |
57 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1615405 rs774002991 |
57 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1193774586 CA346322985 |
59 | S>* | No |
ClinGen gnomAD |
|
|
CA45467058 rs879669574 |
63 | A>G | No |
ClinGen Ensembl |
|
|
CA45467040 rs927044268 |
66 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1615401 rs367990775 |
67 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1615402 rs367990775 |
67 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1615400 rs148127688 |
69 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346322906 rs1443343252 |
71 | A>G | No |
ClinGen gnomAD |
|
|
CA346322908 rs1558429660 |
71 | A>T | No |
ClinGen Ensembl |
|
|
CA346322891 rs1342891938 |
73 | E>D | No |
ClinGen TOPMed |
|
|
rs1356705339 CA346322896 COSM1306773 |
73 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA346322887 rs1367127058 |
74 | I>L | No |
ClinGen gnomAD |
|
|
CA1615399 rs748049737 |
74 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327035233 CA346322884 |
74 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1480526021 CA346322872 |
76 | N>S | No |
ClinGen TOPMed |
|
|
rs755037475 CA1615397 |
77 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 77 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195182509 CA346320622 |
81 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346320621 rs1195182509 |
81 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346320615 rs1466707881 |
81 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346320599 rs1245633562 |
83 | S>G | No |
ClinGen gnomAD |
|
|
CA1615378 rs781126631 |
83 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1615377 rs768622848 |
84 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA346320475 rs1268940078 |
89 | T>A | No |
ClinGen gnomAD |
|
|
rs199931311 CA1615374 |
90 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779450110 CA1615372 |
90 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615373 rs779450110 |
90 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1615370 rs754311572 |
91 | N>H | No |
ClinGen ExAC |
|
|
rs764591808 CA1615369 |
91 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1020698 CA1615368 rs184007282 |
92 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA346320357 rs1431325029 |
94 | E>G | No |
ClinGen gnomAD |
|
|
rs751134564 CA1615367 |
95 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615366 rs765847525 |
96 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762627735 CA1615365 |
98 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615364 rs772805071 |
98 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346320276 rs762627735 |
98 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346320249 rs1275743706 |
99 | G>W | No |
ClinGen TOPMed |
|
|
rs761602676 CA1615362 |
100 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1266002809 CA346320165 |
102 | I>M | No |
ClinGen gnomAD |
|
|
rs987297404 CA45462366 |
102 | I>V | No |
ClinGen TOPMed |
|
|
CA346320160 rs1186571783 |
103 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1573031873 CA346320086 |
106 | N>D | No |
ClinGen Ensembl |
|
|
rs1558426119 CA346320081 |
106 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 107 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1615361 rs776286544 |
112 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_084265 | 114 | L>Q | found in a patient with dysmorphic facies, syndactyly, congenital microcephaly and global developmental delay; unknown pathological significance [UniProt] | No | UniProt |
|
rs768695981 CA1615360 |
115 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1216597650 CA346319814 |
116 | V>I | No |
ClinGen gnomAD |
|
|
CA346319762 rs1427200626 |
118 | Y>F | No |
ClinGen TOPMed |
|
|
CA346319692 rs1229512382 |
121 | C>R | No |
ClinGen gnomAD |
|
|
CA1615359 rs746897581 |
123 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232315987 CA346319639 |
124 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1615357 rs138439257 |
125 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779216294 CA1615355 |
126 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs779216294 CA45462311 |
126 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757562865 CA1615354 |
127 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs539146274 CA346319550 |
129 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA45460712 rs892543374 |
131 | F>L | No |
ClinGen Ensembl |
|
|
rs771237577 CA1615337 |
131 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749443371 CA1615336 |
132 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615335 rs778234495 |
134 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA346318649 rs1186508963 |
138 | G>R | No |
ClinGen gnomAD |
|
|
rs200618009 CA1615334 |
139 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905469417 CA45460694 |
140 | K>Q | No |
ClinGen Ensembl |
|
|
CA1615333 rs748669301 |
141 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45460683 rs760178328 |
142 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA346318546 rs760178328 |
142 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346318534 rs1479794314 |
143 | S>G | No |
ClinGen gnomAD |
|
|
rs187460509 CA1615332 |
144 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1615330 rs749993722 |
144 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1615331 rs570508885 |
144 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346318513 rs187460509 |
144 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346318479 rs1274964616 |
146 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA346318476 rs1274964616 |
146 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1339584282 CA346318447 |
147 | G>D | No |
ClinGen gnomAD |
|
|
rs1374167846 CA346318384 |
151 | Q>E | No |
ClinGen gnomAD |
|
|
CA1615328 rs756973509 |
153 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1573029487 CA346318351 |
153 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 155 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943430256 CA346318278 |
156 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1049204388 CA45460652 |
158 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1615325 rs760326374 |
161 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA346318185 rs760326374 |
161 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1615324 rs775569511 |
164 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1615322 rs566725262 |
165 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770879483 CA1615320 |
170 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1615319 rs749551060 |
172 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151305286 CA1615303 |
174 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567148801 CA1615304 |
174 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1285048049 CA346317526 |
175 | D>G | No |
ClinGen gnomAD |
|
|
rs1487152405 CA346317539 |
175 | D>Y | No |
ClinGen gnomAD |
|
|
CA346317502 rs1476780741 |
176 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144942453 CA1615302 |
177 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144942453 CA346317497 |
177 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113473736 CA45459625 |
177 | L>V | No |
ClinGen Ensembl |
|
|
CA346317492 rs1349574989 |
178 | S>A | No |
ClinGen gnomAD |
|
|
rs773339693 CA1615301 |
178 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346317489 rs1349574989 |
178 | S>P | No |
ClinGen gnomAD |
|
|
CA346317486 rs773339693 |
178 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346317478 rs1326567613 |
179 | S>A | No |
ClinGen gnomAD |
|
|
CA346317466 rs1196879377 |
180 | G>C | No |
ClinGen gnomAD |
|
|
rs762000896 CA1615299 |
180 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs902149481 CA45459605 |
181 | S>C | No |
ClinGen TOPMed |
|
|
rs1483168750 CA346317438 |
182 | F>S | No |
ClinGen gnomAD |
|
|
CA45459599 rs866927286 |
183 | A>S | No |
ClinGen Ensembl |
|
|
rs777019137 CA1615298 |
184 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs916620404 CA45459592 |
184 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs768969031 CA1615297 COSM1020696 |
185 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs530669269 CA346317383 |
185 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530669269 CA1615296 |
185 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530669269 CA346317381 |
185 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770476926 CA1615294 |
186 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346317330 rs1172278752 |
187 | E>D | No |
ClinGen gnomAD |
|
|
CA1615293 rs140596177 |
188 | S>F | No |
ClinGen ESP ExAC |
|
|
CA346317278 rs755875576 |
189 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1195669309 CA346317263 |
190 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs114027780 CA1615290 |
192 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346317209 rs114027780 |
192 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1615289 rs781160902 |
193 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA346317169 rs1573027739 |
195 | T>A | No |
ClinGen Ensembl |
|
|
rs1211296397 CA346317156 |
195 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346317107 rs1358240975 |
197 | T>I | No |
ClinGen TOPMed |
|
|
CA1615287 rs371667563 |
198 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346317103 rs371667563 |
198 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779876696 CA1615267 |
199 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1615266 rs758308670 |
200 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs962040125 CA45459418 |
203 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 206 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543446127 CA45459407 |
206 | G>D | No |
ClinGen Ensembl |
|
|
rs750334385 CA1615265 |
208 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757267414 CA1615263 |
211 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs368634140 CA1615264 |
211 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754063096 CA346316670 |
212 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1615260 rs760935419 |
212 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1615261 rs760935419 |
212 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs754063096 CA1615262 |
212 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA346316650 rs1411300285 |
213 | S>A | No |
ClinGen gnomAD |
|
|
rs1411300285 CA346316657 |
213 | S>T | No |
ClinGen gnomAD |
|
|
CA346316624 rs1558423612 |
214 | E>G | No |
ClinGen Ensembl |
|
|
rs374251302 CA45459367 |
216 | N>H | No |
ClinGen ESP TOPMed |
|
|
rs372927806 CA1615257 |
217 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1615258 rs372927806 |
217 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA45459358 rs202209769 |
219 | S>I | No |
ClinGen Ensembl |
|
|
CA1615256 rs774868550 |
220 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs368648580 CA1615255 |
224 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747731290 CA1615254 |
226 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746642944 CA1615251 |
228 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA346316371 rs1289851228 |
229 | M>L | No |
ClinGen gnomAD |
|
|
rs746662577 CA1615234 |
230 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615232 rs771766474 |
232 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs745741604 CA1615231 |
233 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA346315532 rs1177865681 |
235 | N>K | No |
ClinGen gnomAD |
|
|
CA346315528 rs1430896484 |
236 | Q>K | No |
ClinGen gnomAD |
|
|
CA1615230 rs778662887 |
236 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA346315521 rs1479103748 |
237 | R>K | No |
ClinGen gnomAD |
|
|
CA346315512 rs1486240107 |
238 | K>M | No |
ClinGen gnomAD |
|
|
rs757232443 CA1615228 |
238 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311607520 CA346315506 |
239 | A>E | No |
ClinGen gnomAD |
|
|
CA1615227 rs560003765 |
239 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 241 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558422864 CA346315492 |
241 | R>I | No |
ClinGen Ensembl |
|
|
CA1615208 rs529542550 |
242 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1615209 rs529542550 |
242 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1448331208 CA346315269 |
244 | A>V | No |
ClinGen gnomAD |
|
|
rs1458891550 CA346315251 |
245 | P>H | No |
ClinGen gnomAD |
|
|
rs769618672 CA1615206 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748321333 CA346315241 |
246 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs748321333 CA1615205 |
246 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA346315128 rs1573024370 |
250 | P>L | No |
ClinGen Ensembl |
|
|
rs780589797 CA1615201 |
252 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615200 rs758776026 |
254 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1136672 CA346315015 rs1158595807 |
255 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1237681873 CA346314990 |
256 | K>T | No |
ClinGen gnomAD |
|
|
CA346314959 rs998218202 |
257 | Y>C | No |
ClinGen gnomAD |
|
|
CA45456644 rs998218202 |
257 | Y>S | No |
ClinGen gnomAD |
|
|
CA346314925 rs1488755946 |
259 | V>L | No |
ClinGen gnomAD |
|
|
CA346311494 rs1263675608 |
265 | M>V | No |
ClinGen gnomAD |
|
|
CA1615174 rs754256553 |
266 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 269 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 271 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1615173 rs767074260 |
271 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1615170 rs766082939 |
275 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1200689678 CA346311077 |
277 | G>A | No |
ClinGen gnomAD |
|
|
CA1615169 rs374360324 |
278 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764900817 CA1615167 |
285 | K>E | No |
ClinGen ExAC |
|
|
rs139014739 CA1615165 |
290 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346310726 rs1340314941 |
291 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775698165 CA1615161 |
294 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747151431 COSM3782196 CA1615163 |
294 | V>I | pancreas Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs202169109 CA1615160 |
297 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1615159 COSM1020695 rs746043207 |
297 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA346310452 rs769466033 |
300 | Y>C | No |
ClinGen gnomAD |
|
|
CA45448107 rs769466033 |
300 | Y>F | No |
ClinGen gnomAD |
|
|
CA346310422 rs1182750677 |
301 | N>S | No |
ClinGen TOPMed |
|
|
rs371722566 CA45448102 |
303 | E>Q | No |
ClinGen ESP |
|
|
CA1615141 rs774375646 |
305 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45445390 rs3953395 |
306 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749676180 CA1615139 |
306 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs770329106 CA1615137 |
307 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1354754850 CA346308149 |
313 | A>G | No |
ClinGen gnomAD |
|
|
CA1615134 rs757791378 |
314 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346308093 rs1167057700 |
315 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346307983 rs1241155849 |
318 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 319 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346307787 rs1329372441 |
323 | Y>C | No |
ClinGen gnomAD |
|
|
CA1615133 rs750095651 |
323 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA45445330 rs199712073 |
326 | C>W | No |
ClinGen Ensembl |
|
|
CA45445329 rs201953412 |
327 | W>G | No |
ClinGen Ensembl |
|
|
rs947114741 CA45445328 |
328 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA346307387 rs1324195678 |
332 | Y>D | No |
ClinGen gnomAD |
|
|
rs756918470 CA1615131 |
334 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756918470 CA45445324 |
334 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388319008 CA346307225 |
336 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs914283180 CA45445305 |
337 | S>N | No |
ClinGen TOPMed |
|
|
CA346306966 rs1428362301 |
340 | S>C | No |
ClinGen TOPMed |
|
|
rs1428362301 CA346306965 |
340 | S>F | No |
ClinGen TOPMed |
|
|
CA45445297 rs201771358 |
341 | L>F | No |
ClinGen gnomAD |
|
|
CA346306958 rs201771358 |
341 | L>V | No |
ClinGen gnomAD |
|
|
rs759646566 CA1615126 |
342 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615125 rs759463816 |
342 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759646566 CA45445285 |
342 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224446044 CA346306828 |
344 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1615123 rs771110291 |
346 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs773601922 CA1615121 |
347 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763208496 CA1615122 |
347 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA45445218 rs934480574 |
348 | P>T | No |
ClinGen TOPMed |
|
|
CA346306602 CA1615119 rs748668971 |
350 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1368416925 CA346306576 |
351 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA346306440 rs1438567063 |
354 | S>G | No |
ClinGen gnomAD |
|
|
rs1347857645 CA346306332 |
356 | R>T | No |
ClinGen gnomAD |
|
|
CA1615093 rs748007910 |
357 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs781012055 CA1615092 |
365 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA45443348 rs865823480 |
366 | M>T | No |
ClinGen Ensembl |
|
|
CA346304389 rs1239476697 |
367 | E>V | No |
ClinGen gnomAD |
|
|
CA45443344 rs974511065 |
369 | C>Y | No |
ClinGen Ensembl |
|
|
CA45443342 rs964481529 |
370 | D>N | No |
ClinGen gnomAD |
|
|
rs545027815 CA45443339 |
371 | K>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs754906535 CA1615091 |
371 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1615089 rs766382621 |
372 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1332581304 CA346303985 |
377 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM477380 rs1332581304 CA346303977 |
377 | W>C | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA346303996 rs1404726266 |
377 | W>L | No |
ClinGen gnomAD |
|
|
rs765503875 CA346304025 CA1615086 |
377 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA1615085 rs761998681 |
382 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1615084 rs776898858 |
383 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778283176 CA1615082 COSM1738755 |
384 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1615081 rs776003747 |
385 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1615079 rs748872372 |
389 | V>I | No |
ClinGen ExAC |
|
|
rs1459016915 CA346303308 |
396 | E>G | No |
ClinGen gnomAD |
|
|
CA1615078 rs772828788 |
398 | I>K | No |
ClinGen ExAC |
|
|
rs769613213 CA1615077 |
399 | T>K | No |
ClinGen ExAC |
|
|
COSM160666 CA45443292 rs765483661 |
405 | I>T | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| rs1314347511 | 409 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966943599 CA45443285 |
413 | R>T | No |
ClinGen Ensembl |
|
|
rs780108272 CA1615072 |
415 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467704257 CA346300249 |
417 | P>L | No |
ClinGen gnomAD |
|
|
CA45434642 rs933079162 |
417 | P>T | No |
ClinGen gnomAD |
|
|
CA346300169 rs1342745323 |
420 | I>M | No |
ClinGen TOPMed |
|
|
rs1479951621 CA346300116 |
423 | V>I | No |
ClinGen gnomAD |
|
|
rs1194818208 CA346300040 |
424 | D>E | No |
ClinGen gnomAD |
|
|
CA346300049 rs1263673016 |
424 | D>G | No |
ClinGen gnomAD |
|
|
CA1615050 rs776281435 |
425 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776281435 CA346300024 |
425 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776281435 CA45434633 |
425 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56219559 VAR_040474 CA45434583 |
428 | V>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs779693187 CA1615047 COSM70579 |
428 | V>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 432 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778985840 CA1615044 |
437 | T>K | No |
ClinGen ExAC gnomAD |
|
| VAR_040475 | 439 | L>V | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs754007115 CA1615042 |
441 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA45434557 rs975022412 |
442 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs975022412 CA346299507 |
442 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778120333 CA1615041 |
443 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1615039 rs753148148 |
444 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767957226 CA1615038 |
445 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1615037 rs577436972 |
445 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346299346 rs1474343134 |
446 | T>I | No |
ClinGen gnomAD |
|
|
rs1348334108 CA346299341 |
447 | R>G | No |
ClinGen TOPMed |
|
|
rs764844778 COSM1641910 CA1615035 |
448 | S>N | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA45434505 rs925200380 |
453 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1202537014 CA346299091 |
453 | R>Q | No |
ClinGen gnomAD |
|
|
rs967614764 CA45434499 |
455 | M>V | No |
ClinGen TOPMed |
|
|
rs775992056 CA1615033 |
459 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 459 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759392578 CA1615010 |
462 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45431062 rs78605520 |
463 | Q>K | No |
ClinGen Ensembl |
|
|
CA346297002 rs1227950108 |
463 | Q>P | No |
ClinGen gnomAD |
|
|
CA346296963 rs1409218551 |
464 | D>G | No |
ClinGen TOPMed |
|
|
CA1615008 rs770949145 |
464 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749142819 CA1615007 |
465 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA45431023 rs977281418 |
469 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs967135397 CA45431017 |
471 | L>I | No |
ClinGen Ensembl |
|
|
rs781631870 CA1615003 |
472 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1615001 COSM1020689 rs747429747 |
473 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 475 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431636785 CA346296627 |
478 | L>F | No |
ClinGen gnomAD |
|
|
rs374591026 CA45430968 |
481 | L>I | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 481 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268378433 CA346296500 |
486 | D>E | No |
ClinGen gnomAD |
|
|
rs139703307 CA1614996 |
489 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1318759460 CA346296453 |
490 | E>K | No |
ClinGen gnomAD |
|
|
rs1223330047 CA346296410 |
492 | S>* | No |
ClinGen gnomAD |
|
|
rs1223330047 CA346296408 |
492 | S>L | No |
ClinGen gnomAD |
|
|
CA45430931 rs374043257 |
493 | K>E | No |
ClinGen Ensembl |
|
|
CA346296404 rs1452217794 |
493 | K>T | No |
ClinGen TOPMed |
|
|
CA346295603 rs1406179448 |
496 | T>K | No |
ClinGen gnomAD |
|
|
CA346295559 rs750224048 |
497 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429250867 CA346295553 |
498 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA45429473 rs1037354438 |
499 | R>Q | No |
ClinGen Ensembl |
|
|
rs761814238 CA1614965 |
499 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1614964 rs776884947 |
500 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA346295447 rs1196286791 |
501 | G>S | No |
ClinGen TOPMed |
|
|
CA1614963 rs768805126 |
502 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346295371 rs1473142635 |
503 | I>V | No |
ClinGen gnomAD |
|
|
rs1376784221 CA346295341 |
505 | D>A | No |
ClinGen TOPMed |
|
|
CA346295346 rs1201907599 |
505 | D>H | No |
ClinGen gnomAD |
|
|
rs1201907599 CA346295347 |
505 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1614960 rs775505250 |
506 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs760988367 CA1614961 |
506 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs34821155 VAR_040476 CA45429464 |
506 | I>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA346295315 rs1170895422 |
507 | F>L | No |
ClinGen TOPMed |
|
|
rs772329202 CA1614959 |
511 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA346295178 rs1292998008 |
512 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346295182 rs1292998008 |
512 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1614951 rs779631229 |
513 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346295163 rs779631229 |
513 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs200701032 CA45429376 |
514 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 514 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1614947 rs761867273 |
516 | Q>H | No |
ClinGen ExAC |
|
|
rs1359703206 CA346295120 |
516 | Q>R | No |
ClinGen gnomAD |
|
|
CA1614944 CA1614942 rs760900227 |
517 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1614938 rs775621633 |
521 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA346295010 rs1371873326 |
524 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339847711 CA346294984 |
526 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 528 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346294938 rs1425768007 |
529 | T>A | No |
ClinGen gnomAD |
|
|
rs772232356 CA1614937 |
533 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1614935 rs774609429 |
534 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979066998 CA45429316 |
538 | V>A | No |
ClinGen TOPMed |
|
|
CA1614934 rs771234567 |
538 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs749801983 CA1614933 |
539 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1614932 rs778319547 |
541 | K>T | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1490455089 CA346294698 |
544 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA346294691 rs1246541158 |
545 | K>E | No |
ClinGen TOPMed |
|
|
rs199834186 CA1614930 |
547 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191011347 CA45429270 |
548 | R>* | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs372618188 CA1614929 |
548 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346294636 rs1260783592 |
549 | H>Y | No |
ClinGen gnomAD |
|
|
rs1367065106 CA346294538 |
552 | C>W | No |
ClinGen TOPMed gnomAD |
2 associated diseases with P19525
[MIM: 618877]: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN)
An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination. {ECO:0000269|PubMed:32197074}. Note=The disease may be caused by variants affecting the gene represented in this entry.
[MIM: 619687]: Dystonia 33 (DYT33)
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT33 is a slowly progressive form characterized by onset of focal or generalized dystonia in the first decades of life. Disease manifestations are variable. Some patients show ambulation difficulties, dysarthria, or dysphagia. Some affected individuals may manifest motor delay, lower limb spasticity, and mild developmental delay with intellectual disability. DYT33 penetrance is incomplete. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:33236446, ECO:0000269|PubMed:33866603, ECO:0000269|PubMed:35146068}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination. {ECO:0000269|PubMed:32197074}. Note=The disease may be caused by variants affecting the gene represented in this entry.
- A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT33 is a slowly progressive form characterized by onset of focal or generalized dystonia in the first decades of life. Disease manifestations are variable. Some patients show ambulation difficulties, dysarthria, or dysphagia. Some affected individuals may manifest motor delay, lower limb spasticity, and mild developmental delay with intellectual disability. DYT33 penetrance is incomplete. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:33236446, ECO:0000269|PubMed:33866603, ECO:0000269|PubMed:35146068}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for P19525
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PAS domain | 184 - 305 | IPR000014-1 |
| domain | PAS domain | 464 - 580 | IPR000014-2 |
| domain | PAS-associated, C-terminal | 258 - 312 | IPR000700-1 |
| domain | PAS-associated, C-terminal | 536 - 590 | IPR000700-2 |
| domain | Protein kinase domain | 663 - 952 | IPR000719 |
| repeat | PAC motif | 261 - 303 | IPR001610-1 |
| repeat | PAC motif | 539 - 581 | IPR001610-2 |
| active_site | Serine/threonine-protein kinase, active site | 784 - 796 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 669 - 692 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| ribosome | An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| eukaryotic translation initiation factor 2alpha kinase activity | Catalysis of the reaction: ATP |
| identical protein binding | +Binding to an identical protein or proteins. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein phosphatase regulator activity | Binds to and modulates the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
24 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to amino acid starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of osteoblast proliferation | Any process that stops, prevents or reduces the rate or extent of osteoblast proliferation. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| negative regulation of viral genome replication | Any process that stops, prevents, or reduces the frequency, rate or extent of viral genome replication. |
| positive regulation of chemokine production | Any process that activates or increases the frequency, rate, or extent of chemokine production. |
| positive regulation of cytokine production | Any process that activates or increases the frequency, rate or extent of production of a cytokine. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of NIK/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
| positive regulation of stress-activated MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of hematopoietic progenitor cell differentiation | Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. |
| regulation of hematopoietic stem cell differentiation | Any process that modulates the frequency, rate or extent of hematopoietic stem cell differentiation. |
| regulation of hematopoietic stem cell proliferation | Any process that modulates the frequency, rate or extent of hematopoietic stem cell proliferation. |
| regulation of NLRP3 inflammasome complex assembly | Any process that modulates the frequency, rate or extent of NLRP3 inflammasome complex assembly. |
| response to interferon-alpha | 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 an interferon-alpha stimulus. Interferon-alpha is a type I interferon. |
| response to virus | 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 virus. |
| translation | The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P30291 | WEE1 | Wee1-like protein kinase | Homo sapiens (Human) | PR |
| Q9P2K8 | EIF2AK4 | eIF-2-alpha kinase GCN2 | Homo sapiens (Human) | EV |
| Q99640 | PKMYT1 | Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase | Homo sapiens (Human) | PR |
| Q9NZJ5 | EIF2AK3 | Eukaryotic translation initiation factor 2-alpha kinase 3 | Homo sapiens (Human) | PR |
| Q9T014 | SPA2 | Protein SPA1-RELATED 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGDLSAGFF | MEELNTYRQK | QGVVLKYQEL | PNSGPPHDRR | FTFQVIIDGR | EFPEGEGRSK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KEAKNAAAKL | AVEILNKEKK | AVSPLLLTTT | NSSEGLSMGN | YIGLINRIAQ | KKRLTVNYEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CASGVHGPEG | FHYKCKMGQK | EYSIGTGSTK | QEAKQLAAKL | AYLQILSEET | SVKSDYLSSG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFATTCESQS | NSLVTSTLAS | ESSSEGDFSA | DTSEINSNSD | SLNSSSLLMN | GLRNNQRKAK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RSLAPRFDLP | DMKETKYTVD | KRFGMDFKEI | ELIGSGGFGQ | VFKAKHRIDG | KTYVIKRVKY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NNEKAEREVK | ALAKLDHVNI | VHYNGCWDGF | DYDPETSDDS | LESSDYDPEN | SKNSSRSKTK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CLFIQMEFCD | KGTLEQWIEK | RRGEKLDKVL | ALELFEQITK | GVDYIHSKKL | IHRDLKPSNI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FLVDTKQVKI | GDFGLVTSLK | NDGKRTRSKG | TLRYMSPEQI | SSQDYGKEVD | LYALGLILAE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LLHVCDTAFE | TSKFFTDLRD | GIISDIFDKK | EKTLLQKLLS | KKPEDRPNTS | EILRTLTVWK |
| 550 | |||||
| KSPEKNERHT | C |