O75116
Gene name |
ROCK2 (KIAA0619) |
Protein name |
Rho-associated protein kinase 2 |
Names |
EC 2.7.11.1 , Rho kinase 2 , Rho-associated, coiled-coil-containing protein kinase 2 , Rho-associated, coiled-coil-containing protein kinase II , ROCK-II , p164 ROCK-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9475 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
107-392 (Catalytic kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
107-392 (Catalytic kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
231-255 (Activation loop from InterPro)
Target domain |
39-417 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Riento K et al. (2003) "Rocks: multifunctional kinases in cell behaviour", Nature reviews. Molecular cell biology, 4, 446-56
- Amano M et al. (1999) "The COOH terminus of Rho-kinase negatively regulates rho-kinase activity", The Journal of biological chemistry, 274, 32418-24
- Chen XQ et al. (2002) "Characterization of RhoA-binding kinase ROKalpha implication of the pleckstrin homology domain in ROKalpha function using region-specific antibodies", The Journal of biological chemistry, 277, 12680-8
- Leung T et al. (1996) "The p160 RhoA-binding kinase ROK alpha is a member of a kinase family and is involved in the reorganization of the cytoskeleton", Molecular and cellular biology, 16, 5313-27
Autoinhibited structure

Activated structure

12 structures for O75116
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4L6Q | X-ray | 279 A | A/B | 19-417 | PDB |
4WOT | X-ray | 293 A | A/B/C/D | 22-417 | PDB |
5U7Q | X-ray | 315 A | A/B/C/D | 23-417 | PDB |
5U7R | X-ray | 333 A | A/B/C/D | 23-417 | PDB |
6ED6 | X-ray | 286 A | A/B | 27-417 | PDB |
6P5M | X-ray | 265 A | A/B/C/D | 18-417 | PDB |
6P5P | X-ray | 330 A | A/B/C/D | 18-417 | PDB |
7JNT | X-ray | 221 A | A/B/C/D/E/F/G/H | 19-417 | PDB |
7JOV | X-ray | 259 A | A/B/C/D/E/F/G/H | 23-417 | PDB |
7P6N | X-ray | 300 A | A/B/C/D/E/F/G/H | 19-417 | PDB |
8GDS | X-ray | 271 A | A/B/C/D | 22-417 | PDB |
AF-O75116-F1 | Predicted | AlphaFoldDB |
956 variants for O75116
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs2148066424 RCV001376020 |
527 | R>* | Non-immune hydrops fetalis [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
rs1383664600 RCV001376019 |
1044 | R>* | Variant assessed as Somatic; HIGH impact. Non-immune hydrops fetalis [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
rs2148286382 | 3 | R>Q | No | Ensembl | |
rs1003618482 | 3 | R>W | No |
TOPMed gnomAD |
|
rs780887014 | 4 | P>A | No |
ExAC gnomAD |
|
rs754636827 | 4 | P>L | No |
ExAC gnomAD |
|
rs780887014 | 4 | P>S | No |
ExAC gnomAD |
|
rs1292233613 | 5 | P>L | No | gnomAD | |
rs1292233613 | 5 | P>Q | No | gnomAD | |
rs867931783 | 6 | P>L | No |
1000Genomes TOPMed gnomAD |
|
rs1558411299 | 7 | T>R | No | Ensembl | |
rs758361484 | 8 | G>E | No |
ExAC gnomAD |
|
rs1330384935 | 10 | M>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs750399227 | 10 | M>V | No |
ExAC gnomAD |
|
rs1279317759 | 11 | P>L | No | gnomAD | |
rs764201136 | 11 | P>S | No |
ExAC gnomAD |
|
rs752775547 | 13 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs971557331 | 13 | A>P | No | TOPMed | |
rs971557331 | 13 | A>S | No | TOPMed | |
rs752775547 | 13 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1011980585 | 14 | P>S | No |
TOPMed gnomAD |
|
rs199617335 | 15 | E>D | No | gnomAD | |
TCGA novel | 15 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1325038763 | 15 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs759714742 | 16 | T>I | No |
ExAC TOPMed gnomAD |
|
rs759714742 | 16 | T>N | No |
ExAC TOPMed gnomAD |
|
rs759714742 | 16 | T>S | No |
ExAC TOPMed gnomAD |
|
rs1156659639 | 17 | A>T | No | gnomAD | |
rs371946291 | 17 | A>V | No |
ESP ExAC gnomAD |
|
rs763387507 | 18 | P>L | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 18 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs773708028 | 19 | G>R | No |
ExAC TOPMed gnomAD |
|
rs773708028 | 19 | G>W | No |
ExAC TOPMed gnomAD |
|
rs547017422 | 20 | D>E | No | Ensembl | |
rs776046926 | 20 | D>N | No |
ExAC gnomAD |
|
rs776046926 | 20 | D>Y | No |
ExAC gnomAD |
|
rs199520770 | 21 | G>R | No |
ExAC TOPMed gnomAD |
|
rs199520770 | 21 | G>W | No |
ExAC TOPMed gnomAD |
|
rs779937083 | 23 | G>A | No |
ExAC TOPMed gnomAD |
|
rs779937083 | 23 | G>D | No |
ExAC TOPMed gnomAD |
|
rs1446627904 | 24 | A>G | No |
TOPMed gnomAD |
|
rs1446627904 | 24 | A>V | No |
TOPMed gnomAD |
|
rs745722011 | 26 | R>H | No |
ExAC TOPMed gnomAD |
|
rs745722011 | 26 | R>L | No |
ExAC TOPMed gnomAD |
|
rs1465760381 | 26 | R>S | No | gnomAD | |
rs778979009 | 27 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1669199467 | 28 | R>M | No | gnomAD | |
rs902469624 | 29 | K>R | No |
TOPMed gnomAD |
|
rs1342345132 | 30 | L>V | No | gnomAD | |
rs1669199180 | 31 | E>K | No | Ensembl | |
rs1276091293 | 32 | A>P | No | gnomAD | |
rs1233582144 | 34 | I>M | No |
TOPMed gnomAD |
|
rs1408931331 | 34 | I>T | No |
TOPMed gnomAD |
|
rs1393707937 | 34 | I>V | No | Ensembl | |
rs201281924 | 35 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1318331779 | 35 | R>Q | No | gnomAD | |
rs1036134868 | 37 | P>S | No | Ensembl | |
rs767520743 | 38 | R>C | No |
ExAC TOPMed gnomAD |
|
rs767520743 | 38 | R>G | No |
ExAC TOPMed gnomAD |
|
rs755174294 | 39 | S>C | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 40 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766658319 | 40 | P>S | No |
ExAC TOPMed gnomAD |
|
rs766658319 | 40 | P>T | No |
ExAC TOPMed gnomAD |
|
rs199867337 | 41 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM6087351 COSM6087352 |
43 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1005718 COSM1005716 rs866098413 |
48 | D>G | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs1667242850 | 49 | G>A | No |
TOPMed gnomAD |
|
rs1558361922 | 51 | N>S | No | Ensembl | |
rs1010385393 | 60 | P>R | No | Ensembl | |
rs960307190 | 62 | L>V | No |
TOPMed gnomAD |
|
COSM4084332 COSM4084333 |
63 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1035914716 | 66 | K>E | No | Ensembl | |
COSM1398886 COSM1398887 |
67 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764727812 | 68 | I>V | No |
ExAC gnomAD |
|
COSM1005713 COSM1005715 |
69 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM418607 COSM418606 |
71 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760088893 | 73 | N>H | No |
ExAC TOPMed gnomAD |
|
rs1408278647 | 73 | N>S | No |
TOPMed gnomAD |
|
rs1001716337 | 74 | R>T | No | Ensembl | |
rs1667241842 | 75 | Y>H | No |
TOPMed gnomAD |
|
rs1460362071 | 78 | I>T | No |
TOPMed gnomAD |
|
rs1667202246 | 79 | V>A | No | gnomAD | |
rs368014961 | 80 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs1667202022 | 81 | K>I | No | TOPMed | |
TCGA novel | 82 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 82 | I>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1667201608 | 84 | G>D | No | TOPMed | |
rs1667201693 | 84 | G>S | No | TOPMed | |
rs1456155299 | 85 | L>Q | No | gnomAD | |
rs575795682 | 92 | Y>F | No |
1000Genomes ExAC gnomAD |
|
rs1419079002 | 93 | D>H | No | gnomAD | |
rs1423847374 | 94 | V>A | No | gnomAD | |
rs1189154739 | 95 | V>I | No |
TOPMed gnomAD |
|
rs1667200322 | 101 | G>V | No | TOPMed | |
COSM714684 COSM714683 |
107 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1667199989 | 107 | Q>K | No | Ensembl | |
rs1254543995 | 107 | Q>R | No |
TOPMed gnomAD |
|
rs1191034888 | 110 | R>C | No |
TOPMed gnomAD |
|
rs1434029280 | 110 | R>H | No |
TOPMed gnomAD |
|
rs1434029280 | 110 | R>P | No |
TOPMed gnomAD |
|
rs1665762249 | 112 | K>R | No | Ensembl | |
rs148591129 | 113 | A>P | No |
1000Genomes ExAC gnomAD |
|
rs148591129 | 113 | A>S | No |
1000Genomes ExAC gnomAD |
|
rs148591129 | 113 | A>T | No |
1000Genomes ExAC gnomAD |
|
COSM1185833 rs564194657 COSM1185832 |
115 | Q>H | lung [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1482875648 | 115 | Q>L | No | gnomAD | |
rs774529136 | 116 | K>T | No |
ExAC gnomAD |
|
rs749545036 | 117 | V>F | No | ExAC | |
COSM4401699 COSM4401700 |
121 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1297052243 | 129 | I>M | No | gnomAD | |
rs1226451739 | 135 | A>V | No | gnomAD | |
RCV000933226 rs201939803 |
136 | F>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201939803 | 136 | F>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1398873 rs755738345 COSM1398872 |
138 | W>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
COSM3040212 COSM3040211 |
138 | W>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1665759885 | 139 | E>G | No | Ensembl | |
COSM5103320 COSM5103319 |
140 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs748584485 | 142 | D>G | No |
ExAC gnomAD |
|
TCGA novel | 146 | F>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs755583790 | 147 | A>S | No |
ExAC TOPMed gnomAD |
|
rs755583790 | 147 | A>T | No |
ExAC TOPMed gnomAD |
|
rs376820323 | 148 | N>S | No |
ESP TOPMed gnomAD |
|
rs750996051 | 149 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1193595808 | 154 | Q>R | No | gnomAD | |
rs1665187363 | 156 | F>L | No | Ensembl | |
rs1553303519 | 157 | Y>C | No | Ensembl | |
TCGA novel | 157 | Y>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1665187117 | 157 | Y>N | No | TOPMed | |
COSM4397462 COSM4397463 |
160 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 161 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs749959332 | 163 | R>K | No |
ExAC gnomAD |
|
rs962837972 | 167 | M>V | No | TOPMed | |
rs1016039350 | 168 | V>I | No |
TOPMed gnomAD |
|
rs1234494799 | 169 | M>L | No | gnomAD | |
COSM1005642 COSM1005640 |
170 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 170 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1337182372 | 172 | M>I | No | gnomAD | |
rs199740035 | 172 | M>L | No |
ExAC TOPMed gnomAD |
|
rs868859632 | 174 | G>V | No | Ensembl | |
rs1390131866 | 179 | N>I | No |
TOPMed gnomAD |
|
rs756942050 | 180 | L>F | No |
ExAC TOPMed gnomAD |
|
rs753588993 | 182 | S>N | No |
ExAC gnomAD |
|
rs1170615120 | 183 | N>S | No | TOPMed | |
rs1282382142 | 186 | V>A | No | Ensembl | |
COSM1005637 COSM1005639 |
188 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 190 | W>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1388365886 | 191 | A>T | No | gnomAD | |
rs1295036583 | 192 | K>E | No | gnomAD | |
COSM1631252 COSM1631253 rs763895660 |
192 | K>R | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
TCGA novel | 193 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1665184052 | 198 | V>I | No | Ensembl | |
rs1363941468 | 201 | A>S | No |
TOPMed gnomAD |
|
rs375900030 | 202 | L>V | No |
ESP gnomAD |
|
COSM4932371 COSM4932370 |
203 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1665183400 | 203 | D>V | No | Ensembl | |
rs1665183069 | 205 | I>V | No | TOPMed | |
rs1665182657 | 208 | M>I | No | TOPMed | |
rs752680185 | 209 | G>D | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 214 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1464860959 | 217 | P>A | No | gnomAD | |
TCGA novel | 225 | H>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs372642453 | 225 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1266723148 | 225 | H>Y | No |
TOPMed gnomAD |
|
COSM5175713 COSM5175714 |
226 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 233 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 238 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1385868238 | 240 | D>G | No | gnomAD | |
rs1665180586 | 240 | D>H | No | TOPMed | |
rs368133500 | 242 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1664851883 | 242 | T>YVSGSFRA* | No | Ensembl | |
rs1664851776 | 244 | M>I | No | TOPMed | |
rs1333622304 | 246 | H>R | No |
TOPMed gnomAD |
|
rs765422651 | 248 | D>G | No |
ExAC gnomAD |
|
rs762061673 | 250 | A>T | No |
ExAC gnomAD |
|
rs2148086670 | 251 | V>A | No | 1000Genomes | |
rs776989339 | 251 | V>I | No |
ExAC TOPMed gnomAD |
|
COSM3565405 COSM3565404 |
255 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 255 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3425121 COSM3425122 |
255 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1287684 COSM1287685 |
257 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664850997 | 257 | I>M | No | Ensembl | |
TCGA novel | 258 | S>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM6153658 COSM6153659 |
258 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs187905137 | 262 | L>M | No |
1000Genomes ExAC gnomAD |
|
rs1664850583 | 266 | G>R | No | gnomAD | |
rs761077451 | 266 | G>V | No |
ExAC gnomAD |
|
rs775757018 | 267 | G>D | No |
ExAC TOPMed gnomAD |
|
rs775757018 | 267 | G>V | No |
ExAC TOPMed gnomAD |
|
rs772589940 | 269 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1664849839 | 270 | F>Y | No | gnomAD | |
rs1211220471 | 271 | Y>C | No | gnomAD | |
rs1281824632 | 271 | Y>H | No | gnomAD | |
rs1272250445 | 273 | R>* | No | gnomAD | |
rs773789965 | 273 | R>P | No |
ExAC TOPMed gnomAD |
|
rs773789965 | 273 | R>Q | No |
ExAC TOPMed gnomAD |
|
COSM3797858 COSM3797859 |
279 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1429688570 | 280 | V>L | No | TOPMed | |
rs910042982 | 289 | V>M | No | Ensembl | |
rs1664745478 | 291 | D>E | No | TOPMed | |
TCGA novel | 293 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs767786101 | 296 | A>V | No |
ExAC gnomAD |
|
rs1664744881 | 297 | D>E | No | gnomAD | |
rs370278900 | 304 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 305 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs922190084 | 307 | M>V | No |
TOPMed gnomAD |
|
rs1443199981 | 308 | D>N | No | gnomAD | |
rs771483620 | 310 | K>N | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 312 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs559020986 | 312 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1572267045 | 314 | C>Y | No | TOPMed | |
rs1664743708 | 315 | F>C | No | gnomAD | |
rs1463494030 | 315 | F>L | No |
TOPMed gnomAD |
|
rs367600731 | 316 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1471943360 | 318 | D>G | No | gnomAD | |
rs1403307948 | 318 | D>Y | No | gnomAD | |
rs201316858 | 323 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs754726374 | 323 | K>I | No |
ExAC TOPMed gnomAD |
|
rs1211549993 | 323 | K>N | No | gnomAD | |
rs754726374 | 323 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1409454002 | 324 | H>Q | No | gnomAD | |
rs746861128 | 324 | H>R | No |
ExAC TOPMed gnomAD |
|
rs961835571 | 326 | K>E | No | gnomAD | |
TCGA novel | 327 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1664741879 | 327 | N>S | No | gnomAD | |
rs1208017685 | 328 | L>F | No | gnomAD | |
rs753927042 | 330 | C>S | No |
ExAC gnomAD |
|
rs1367110997 | 330 | C>Y | No | gnomAD | |
rs764103419 | 331 | A>V | No |
ExAC TOPMed gnomAD |
|
COSM3565396 COSM3565395 |
336 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1269243338 | 338 | V>A | No |
TOPMed gnomAD |
|
rs1257372019 | 339 | R>* | No | TOPMed | |
COSM1398848 COSM1398847 rs1664658999 |
339 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs1171441372 | 341 | G>A | No | gnomAD | |
rs763387619 | 342 | R>T | No |
ExAC gnomAD |
|
rs1664658405 | 344 | G>E | No | TOPMed | |
TCGA novel | 346 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1664658268 | 346 | E>A | No | TOPMed | |
TCGA novel | 347 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs977827342 | 347 | E>D | No | TOPMed | |
rs1199987707 | 349 | R>S | No |
TOPMed gnomAD |
|
rs1395511221 | 350 | Q>* | No | gnomAD | |
rs765702766 | 350 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs765702766 | 350 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1426693555 COSM3565393 COSM3565394 |
352 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1049773415 | 352 | P>T | No | Ensembl | |
rs1191463083 | 358 | Q>R | No | TOPMed | |
rs765831941 | 362 | D>G | No |
ExAC gnomAD |
|
rs1187197699 | 364 | I>V | No | gnomAD | |
rs369959149 | 367 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
rs200150539 | 369 | A>G | No |
ExAC TOPMed gnomAD |
|
rs200150539 | 369 | A>V | No |
ExAC TOPMed gnomAD |
|
rs753237427 | 370 | P>T | No | ExAC | |
rs763708164 | 372 | V>G | No | ExAC | |
rs2148075672 | 372 | V>I | No | Ensembl | |
rs760337689 | 373 | P>T | No | ExAC | |
rs1664630506 | 376 | S>N | No | Ensembl | |
rs1572263130 | 376 | S>R | No | Ensembl | |
rs1572263126 | 377 | S>R | No | Ensembl | |
rs775276884 | 379 | I>V | No |
ExAC gnomAD |
|
rs1664630005 | 381 | S>N | No | TOPMed | |
rs1664629779 | 385 | D>G | No | TOPMed | |
rs1664629451 | 386 | D>G | No | Ensembl | |
rs759226246 | 386 | D>N | No |
ExAC gnomAD |
|
rs377480951 | 387 | I>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1252221792 | 387 | I>M | No |
TOPMed gnomAD |
|
rs377480951 | 387 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs770727992 | 389 | D>N | No |
ExAC gnomAD |
|
TCGA novel | 390 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs776629994 | 392 | G>E | No |
ExAC gnomAD |
|
rs1333267871 | 392 | G>R | No |
TOPMed gnomAD |
|
rs776629994 | 392 | G>V | No |
ExAC gnomAD |
|
rs1234517810 | 393 | D>V | No | gnomAD | |
rs1355710783 | 394 | V>A | No | gnomAD | |
rs999968637 | 396 | T>I | No |
TOPMed gnomAD |
|
rs999968637 | 396 | T>N | No |
TOPMed gnomAD |
|
rs999968637 | 396 | T>S | No |
TOPMed gnomAD |
|
rs1156504196 | 398 | P>S | No | TOPMed | |
rs1419492371 | 399 | I>M | No |
TOPMed gnomAD |
|
rs375372605 | 399 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2148075530 | 400 | P>L | No | Ensembl | |
rs2148075538 | 400 | P>S | No | Ensembl | |
TCGA novel | 407 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1664627695 | 407 | Q>H | No | gnomAD | |
rs1029575797 | 416 | Y>C | No | Ensembl | |
rs758688551 | 416 | Y>H | No |
ExAC gnomAD |
|
rs779355928 | 417 | R>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 419 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1664626555 | 419 | N>Y | No | Ensembl | |
rs757646214 | 420 | L>I | No |
ExAC TOPMed gnomAD |
|
rs965392252 | 424 | D>E | No |
TOPMed gnomAD |
|
rs972787975 | 424 | D>N | No | Ensembl | |
rs189516597 | 425 | S>F | No |
1000Genomes ESP ExAC gnomAD |
|
rs1664529183 | 426 | P>S | No |
TOPMed gnomAD |
|
rs1441578233 | 428 | C>G | No | gnomAD | |
VAR_041062 RCV000454422 CA1530417 rs2230774 |
431 | T>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2230774 | 431 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2148071780 | 432 | D>Y | No | Ensembl | |
rs1664528247 | 433 | S>A | No |
TOPMed gnomAD |
|
rs780773039 | 433 | S>C | No |
ExAC TOPMed gnomAD |
|
rs780773039 | 433 | S>F | No |
ExAC TOPMed gnomAD |
|
rs371977002 | 434 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
rs199983938 | 434 | I>V | No |
1000Genomes ExAC gnomAD |
|
rs954340164 | 435 | Q>L | No | Ensembl | |
rs766009922 | 438 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1032991211 | 439 | N>D | No |
TOPMed gnomAD |
|
rs2148071710 | 439 | N>K | No | Ensembl | |
rs762787575 | 439 | N>T | No |
ExAC gnomAD |
|
rs1170192181 | 441 | E>D | No | gnomAD | |
rs1664462610 | 445 | I>T | No | Ensembl | |
rs756019279 | 446 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs752579341 | 448 | K>R | No |
ExAC gnomAD |
|
rs1267902916 | 449 | L>P | No | gnomAD | |
rs1664461766 | 455 | H>N | No | Ensembl | |
rs758533507 | 455 | H>R | No |
ExAC TOPMed gnomAD |
|
rs765515929 | 457 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1558300337 | 460 | M>L | No | Ensembl | |
rs1468508347 | 460 | M>T | No | TOPMed | |
rs1558300308 | 461 | Q>P | No | Ensembl | |
rs761964777 | 462 | A>V | No |
ExAC gnomAD |
|
rs776997959 | 469 | K>T | No |
ExAC gnomAD |
|
rs751625329 | 470 | C>Y | No |
TOPMed gnomAD |
|
rs764371898 | 471 | K>R | No |
ExAC gnomAD |
|
TCGA novel | 474 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1013023821 COSM4084282 COSM4084283 |
476 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1572255463 | 476 | R>H | No | Ensembl | |
rs1358847863 | 478 | E>G | No | gnomAD | |
rs764432475 | 479 | K>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 480 | T>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1398838 COSM1398837 |
481 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1325988 COSM1325987 |
484 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs959441048 | 485 | E>Q | No |
TOPMed gnomAD |
|
COSM4818166 COSM4818165 |
486 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664400681 | 488 | I>V | No | TOPMed | |
rs1221439194 | 491 | R>Q | No | TOPMed | |
rs1293985451 | 492 | K>E | No | TOPMed | |
rs747913278 | 492 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1307412206 | 493 | S>N | No | TOPMed | |
rs1167146496 | 494 | V>A | No |
TOPMed gnomAD |
|
rs1392405999 | 494 | V>M | No | gnomAD | |
rs768660182 | 496 | S>* | No |
ExAC gnomAD |
|
rs1260038775 | 497 | A>V | No | Ensembl | |
rs1664399022 | 501 | L>S | No | gnomAD | |
rs963509272 | 504 | E>Q | No | Ensembl | |
rs1467487602 | 508 | L>R | No | gnomAD | |
rs1489303995 | 509 | Q>R | No | Ensembl | |
rs1015004425 | 510 | H>R | No | gnomAD | |
rs1184726494 | 510 | H>Y | No | TOPMed | |
rs1211038248 | 511 | K>R | No | gnomAD | |
rs1356629612 | 513 | A>T | No |
TOPMed gnomAD |
|
rs955100356 | 514 | E>D | No | Ensembl | |
rs753011445 | 514 | E>G | No |
ExAC TOPMed gnomAD |
|
rs767881289 | 515 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1414992810 | 517 | R>K | No | TOPMed | |
rs1664396287 | 522 | E>D | No | Ensembl | |
rs766961740 | 523 | A>E | No |
ExAC gnomAD |
|
rs762340837 | 525 | K>R | No |
ExAC gnomAD |
|
TCGA novel | 526 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs772811025 | 527 | R>Q | No |
ExAC gnomAD |
|
rs1664395696 | 529 | L>F | No |
TOPMed gnomAD |
|
COSM1564855 COSM1564856 |
529 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs190769228 | 531 | N>H | No |
1000Genomes ExAC gnomAD |
|
TCGA novel | 532 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 534 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 535 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1664390567 | 539 | Q>R | No |
TOPMed gnomAD |
|
COSM3971519 COSM3971518 |
540 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel rs764811315 |
542 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed |
rs764811315 | 542 | D>Y | No |
ExAC TOPMed |
|
TCGA novel | 546 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1558298272 | 546 | R>G | No | Ensembl | |
rs1558298263 | 546 | R>K | No |
TOPMed gnomAD |
|
TCGA novel | 546 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1195694008 | 548 | Q>E | No |
TOPMed gnomAD |
|
rs760511802 | 549 | N>H | No |
ExAC gnomAD |
|
rs745831464 | 551 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs773097695 | 552 | I>V | No |
ExAC gnomAD |
|
rs1209703176 | 553 | S>C | No | gnomAD | |
rs769858786 | 553 | S>P | No |
ExAC gnomAD |
|
rs1664388396 | 557 | V>L | No | Ensembl | |
rs1664388396 | 557 | V>M | No | Ensembl | |
rs1280448114 | 561 | Q>R | No | gnomAD | |
rs1341955192 | 565 | D>G | No | Ensembl | |
rs1664379265 | 567 | T>I | No | gnomAD | |
rs1664379265 | 567 | T>N | No | gnomAD | |
TCGA novel | 568 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1027383462 | 568 | N>S | No |
TOPMed gnomAD |
|
rs760350090 | 569 | A>T | No | Ensembl | |
rs1466584300 | 572 | R>* | No | gnomAD | |
rs747260728 | 572 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs747260728 COSM3836622 COSM3836621 |
572 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1664378068 | 573 | T>A | No | gnomAD | |
TCGA novel | 575 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs766080162 | 575 | S>F | No | Ensembl | |
rs1403246942 | 576 | D>G | No | gnomAD | |
rs1664377683 | 577 | T>A | No |
TOPMed gnomAD |
|
rs1664377683 | 577 | T>S | No |
TOPMed gnomAD |
|
rs993262145 | 578 | A>S | No | TOPMed | |
rs1415434255 | 578 | A>V | No |
TOPMed gnomAD |
|
COSM3565382 COSM3565381 |
579 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs377618955 | 580 | R>G | No |
ExAC TOPMed gnomAD |
|
rs753346725 | 580 | R>L | No |
ExAC gnomAD |
|
rs753346725 | 580 | R>Q | No |
ExAC gnomAD |
|
rs377618955 | 580 | R>W | No |
ExAC TOPMed gnomAD |
|
COSM1481864 COSM1481863 |
581 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664376627 | 581 | L>V | No | TOPMed | |
rs755655484 | 583 | K>E | No |
ExAC gnomAD |
|
rs1252482300 | 584 | T>I | No |
TOPMed gnomAD |
|
rs1252482300 | 584 | T>S | No |
TOPMed gnomAD |
|
rs1664375718 | 585 | Q>R | No | Ensembl | |
rs752389673 | 586 | A>T | No |
ExAC gnomAD |
|
rs767132059 | 593 | Q>E | No |
ExAC gnomAD |
|
rs751343885 | 599 | N>S | No |
ExAC TOPMed gnomAD |
|
RCV002246826 VAR_041063 rs35768389 |
601 | D>V | No |
ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs768721907 | 604 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1664373842 | 607 | C>R | No | Ensembl | |
rs1323848258 | 608 | L>M | No |
TOPMed gnomAD |
|
rs1664373538 | 609 | L>P | No | gnomAD | |
rs1323669309 | 610 | E>G | No |
TOPMed gnomAD |
|
rs1369918538 | 611 | T>I | No |
TOPMed gnomAD |
|
COSM1325990 COSM1325989 |
612 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664372711 | 613 | K>R | No | TOPMed | |
rs1664372427 | 614 | L>F | No | Ensembl | |
rs1664372316 | 615 | K>* | No | Ensembl | |
rs1160193624 | 616 | L>F | No | gnomAD | |
rs1160193624 | 616 | L>I | No | gnomAD | |
rs1394467244 | 617 | E>D | No | gnomAD | |
COSM3797854 COSM3797855 |
617 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664371749 | 618 | K>R | No | TOPMed | |
rs1664371630 | 620 | F>L | No | Ensembl | |
rs935995814 | 621 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1189394965 | 621 | I>T | No |
TOPMed gnomAD |
|
rs746201358 | 622 | N>S | No |
ExAC TOPMed gnomAD |
|
rs907932374 | 627 | L>V | No | Ensembl | |
rs778490468 | 629 | S>C | No |
ExAC TOPMed gnomAD |
|
rs913697140 | 634 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM1481861 COSM1481862 |
637 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs755636674 | 638 | S>T | No |
ExAC gnomAD |
|
rs780864829 | 640 | I>L | No |
ExAC gnomAD |
|
rs1429627024 | 640 | I>M | No | gnomAD | |
rs754610202 | 640 | I>R | No |
ExAC TOPMed gnomAD |
|
rs1664369347 | 641 | I>T | No | Ensembl | |
rs1167456096 | 643 | D>N | No | TOPMed | |
rs2148065209 | 645 | Q>E | No | Ensembl | |
COSM1005622 COSM1005624 |
646 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664356681 | 648 | I>L | No | TOPMed | |
rs1664356552 | 649 | C>R | No | TOPMed | |
rs754592808 | 649 | C>Y | No |
ExAC gnomAD |
|
rs1169636481 | 650 | G>D | No | gnomAD | |
rs746661835 | 653 | E>K | No |
ExAC gnomAD |
|
rs1664355593 | 655 | L>* | No | Ensembl | |
rs1474975134 | 658 | G>C | No | gnomAD | |
rs1474975134 | 658 | G>S | No | gnomAD | |
rs765183859 | 660 | I>M | No |
ExAC gnomAD |
|
rs750261875 | 660 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1664354505 | 661 | L>F | No |
TOPMed gnomAD |
|
rs376938631 | 661 | L>I | No |
ESP TOPMed |
|
rs200475392 | 663 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs767495736 | 663 | A>V | No |
ExAC gnomAD |
|
rs1664353723 | 664 | K>N | No | TOPMed | |
TCGA novel | 664 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1165643377 | 665 | V>L | No |
TOPMed gnomAD |
|
rs774700263 | 667 | L>Q | No |
ExAC TOPMed gnomAD |
|
rs774700263 | 667 | L>R | No |
ExAC TOPMed gnomAD |
|
rs766756146 | 669 | K>R | No |
ExAC gnomAD |
|
rs1664352542 | 673 | Q>L | No |
TOPMed gnomAD |
|
rs770278980 | 674 | E>G | No |
ExAC gnomAD |
|
TCGA novel | 675 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs376177845 | 675 | R>T | No |
ESP TOPMed |
|
rs748608634 | 676 | F>Y | No |
ExAC TOPMed gnomAD |
|
rs1572252589 | 678 | D>N | No | Ensembl | |
rs2148064494 | 679 | L>F | No | Ensembl | |
rs1664351272 | 679 | L>V | No | TOPMed | |
COSM5755800 COSM5755801 |
682 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1398834 COSM1398835 |
684 | S>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1156982814 | 685 | N>S | No |
TOPMed gnomAD |
|
rs763282423 | 686 | M>T | No |
ExAC gnomAD |
|
rs766667964 | 686 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1381539409 | 687 | E>D | No | gnomAD | |
rs750735443 | 687 | E>K | No |
ExAC gnomAD |
|
rs1193556899 | 688 | I>R | No | gnomAD | |
rs927365196 | 690 | M>K | No |
TOPMed gnomAD |
|
rs927365196 | 690 | M>T | No |
TOPMed gnomAD |
|
rs2148060306 | 691 | T>I | No | Ensembl | |
COSM1398832 COSM1398833 |
695 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765515362 | 697 | I>T | No |
ExAC TOPMed gnomAD |
|
rs984336860 | 698 | Q>H | No |
TOPMed gnomAD |
|
rs762297001 | 700 | S>G | No |
ExAC gnomAD |
|
rs1664256390 | 705 | E>A | No | TOPMed | |
rs1664256274 | 706 | A>G | No | Ensembl | |
rs939345819 | 708 | H>R | No |
TOPMed gnomAD |
|
COSM1005618 COSM1005620 rs1460278753 |
709 | K>E | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs776984846 | 710 | A>T | No |
ExAC gnomAD |
|
rs1664255554 | 712 | K>E | No | TOPMed | |
COSM263418 COSM263419 |
712 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664255311 | 713 | A>S | No | Ensembl | |
rs1309972292 | 713 | A>V | No | gnomAD | |
COSM4427926 rs869312716 COSM4427927 CA358642 RCV000209925 |
714 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
TCGA novel | 714 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778059351 | 716 | A>T | No | Ensembl | |
rs760140608 | 716 | A>V | No | ExAC | |
rs1664254033 | 717 | D>G | No | Ensembl | |
rs1262884931 | 719 | N>S | No |
TOPMed gnomAD |
|
rs771651568 | 720 | K>N | No |
ExAC gnomAD |
|
rs1460310600 RCV000997028 |
722 | Y>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
rs1664253706 | 722 | Y>N | No | Ensembl | |
rs1421981372 | 726 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1446917935 | 728 | A>T | No | TOPMed | |
rs749156202 | 729 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs749156202 | 729 | K>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 732 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1664252625 | 733 | M>V | No | Ensembl | |
rs371591492 | 734 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
rs757526335 | 736 | M>V | No |
ExAC gnomAD |
|
rs1374986506 | 737 | E>K | No |
TOPMed gnomAD |
|
rs1446636508 | 738 | K>E | No | gnomAD | |
rs754097125 | 739 | K>Q | No |
ExAC gnomAD |
|
rs1167834471 | 740 | L>F | No | gnomAD | |
rs764443687 | 741 | L>W | No |
ExAC gnomAD |
|
rs1162283464 | 746 | L>S | No | gnomAD | |
rs1021044760 | 747 | K>E | No |
TOPMed gnomAD |
|
rs1664130869 | 748 | Q>H | No |
TOPMed gnomAD |
|
rs188469889 | 750 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs201820613 | 751 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1457229425 | 753 | L>V | No | gnomAD | |
TCGA novel | 758 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs372509570 | 758 | E>K | No |
ESP ExAC gnomAD |
|
rs1458257852 | 759 | K>N | No | gnomAD | |
rs1381420833 | 760 | R>K | No |
TOPMed gnomAD |
|
rs2148054960 | 761 | C>Y | No | 1000Genomes | |
rs765898223 | 763 | L>V | No |
ExAC TOPMed gnomAD |
|
COSM4084264 COSM4084263 |
766 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664129413 | 768 | L>V | No | TOPMed | |
rs762679348 | 769 | K>I | No |
ExAC TOPMed gnomAD |
|
rs762679348 | 769 | K>R | No |
ExAC TOPMed gnomAD |
|
rs773066505 | 770 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs769698930 | 770 | Q>L | No |
ExAC TOPMed gnomAD |
|
rs769698930 | 770 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1664128684 | 773 | Q>R | No | Ensembl | |
rs748007730 | 774 | K>E | No |
ExAC gnomAD |
|
rs368271329 | 777 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
COSM4929746 COSM4929745 |
777 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs927981383 | 778 | L>F | No | Ensembl | |
COSM5168942 COSM5168941 |
778 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664127917 | 780 | K>E | No | TOPMed | |
rs1664127803 | 780 | K>R | No |
TOPMed gnomAD |
|
rs374045267 | 782 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs374045267 | 782 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs757357913 | 783 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1403190291 | 784 | V>M | No | gnomAD | |
rs1163908364 | 787 | E>D | No |
TOPMed gnomAD |
|
rs528187081 | 787 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1664127103 | 787 | E>K | No | TOPMed | |
rs778025113 | 788 | D>G | No |
ExAC gnomAD |
|
rs777936902 | 789 | V>I | No |
ExAC gnomAD |
|
rs1350122458 | 790 | R>G | No |
TOPMed gnomAD |
|
rs948111787 | 793 | T>A | No | Ensembl | |
rs368029536 | 793 | T>I | No |
ESP ExAC gnomAD |
|
rs368029536 | 793 | T>R | No |
ESP ExAC gnomAD |
|
COSM1305566 COSM1305565 |
796 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664109213 | 796 | I>T | No | Ensembl | |
COSM475785 COSM475786 |
797 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664109101 | 797 | E>Q | No | TOPMed | |
COSM475784 COSM475783 |
797 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1664108860 | 798 | Q>E | No | TOPMed | |
rs1312051404 | 798 | Q>H | No | gnomAD | |
rs781549565 | 801 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs370068257 | 803 | R>C | No |
ExAC TOPMed gnomAD |
|
rs942166194 | 803 | R>H | No | gnomAD | |
rs2148054183 | 805 | L>F | No | Ensembl | |
rs1488092249 | 808 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1338172145 | 815 | Q>E | No | gnomAD | |
rs757896375 | 817 | V>F | No |
ExAC gnomAD |
|
rs757896375 | 817 | V>I | No |
ExAC gnomAD |
|
rs2148054121 | 820 | L>I | No | Ensembl | |
rs1664106792 | 820 | L>R | No | Ensembl | |
TCGA novel | 820 | L>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1167646183 | 821 | K>N | No |
TOPMed gnomAD |
|
rs753624880 | 821 | K>Q | No |
ExAC gnomAD |
|
rs760442417 | 822 | M>K | No |
ExAC gnomAD |
|
TCGA novel | 822 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs760442417 | 822 | M>T | No |
ExAC gnomAD |
|
rs763949139 | 822 | M>V | No |
ExAC gnomAD |
|
rs1476943025 | 825 | K>R | No | gnomAD | |
COSM3425118 COSM3425119 |
830 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs771940265 | 830 | E>D | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 831 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1236300627 | 831 | N>Y | No | gnomAD | |
rs762979588 | 832 | N>D | No |
ExAC TOPMed gnomAD |
|
rs1325128410 | 833 | H>Y | No | gnomAD | |
rs2148054042 | 835 | M>I | No | Ensembl | |
rs1664104589 | 835 | M>L | No | TOPMed | |
rs1664104589 | 835 | M>V | No | TOPMed | |
rs373352683 | 837 | M>L | No |
ESP TOPMed gnomAD |
|
rs373352683 | 837 | M>V | No |
ESP TOPMed gnomAD |
|
rs1217670473 | 839 | M>I | No | gnomAD | |
rs769946012 | 842 | E>Q | No |
ExAC gnomAD |
|
rs1382640563 | 842 | E>V | No |
TOPMed gnomAD |
|
rs748373019 | 845 | N>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 846 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1664103255 | 846 | A>T | No | gnomAD | |
rs1301069849 | 846 | A>V | No | gnomAD | |
rs1664103010 | 847 | E>D | No | TOPMed | |
rs781327430 | 849 | R>Q | No |
ExAC TOPMed gnomAD |
|
COSM255843 COSM255844 rs1348532929 |
852 | R>C | central_nervous_system [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs1348532929 | 852 | R>G | No |
TOPMed gnomAD |
|
rs761931112 | 852 | R>H | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 852 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1348532929 | 852 | R>S | No |
TOPMed gnomAD |
|
rs1663873309 | 854 | D>N | No | Ensembl | |
COSM99112 rs1663873189 COSM1196945 |
854 | D>V | lung stomach [Cosmic] | No |
cosmic curated TOPMed |
rs1663872805 | 859 | M>I | No | Ensembl | |
rs1380297455 | 859 | M>V | No | gnomAD | |
rs768794358 | 862 | L>R | No |
ExAC gnomAD |
|
rs1437334168 | 864 | D>Y | No | gnomAD | |
rs1404966994 | 866 | L>V | No | TOPMed | |
COSM263416 COSM263417 rs1196050559 |
867 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1263474499 | 869 | E>Q | No | gnomAD | |
rs201566611 | 870 | Q>L | No | TOPMed | |
rs201566611 | 870 | Q>R | No | TOPMed | |
rs1663871459 | 871 | Y>C | No |
TOPMed gnomAD |
|
rs1329386221 | 877 | K>E | No | gnomAD | |
rs1228513348 | 878 | T>I | No | Ensembl | |
rs1663845860 | 880 | V>I | No | TOPMed | |
rs200468857 | 881 | R>K | No |
ExAC TOPMed gnomAD |
|
rs200468857 | 881 | R>T | No |
ExAC TOPMed gnomAD |
|
rs964529068 | 881 | R>W | No | Ensembl | |
rs1010947270 | 883 | L>F | No | Ensembl | |
rs771593782 | 884 | K>T | No |
ExAC gnomAD |
|
rs1222515906 | 885 | E>A | No |
TOPMed gnomAD |
|
TCGA novel | 886 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1384438344 | 887 | C>F | No | gnomAD | |
rs375269209 | 887 | C>R | No |
ESP ExAC TOPMed gnomAD |
|
COSM1005601 COSM1005603 |
890 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663843946 | 891 | T>I | No | TOPMed | |
rs777160284 | 893 | L>V | No |
ExAC gnomAD |
|
rs1030991062 | 894 | G>A | No |
TOPMed gnomAD |
|
rs1030991062 | 894 | G>D | No |
TOPMed gnomAD |
|
rs1030991062 | 894 | G>V | No |
TOPMed gnomAD |
|
rs1375404614 | 895 | K>E | No | gnomAD | |
COSM1398823 COSM1398824 |
896 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1262208183 | 897 | L>S | No | gnomAD | |
rs1191167022 | 898 | Q>P | No | gnomAD | |
rs868786728 | 899 | Q>R | No | gnomAD | |
rs1302549614 | 900 | K>N | No |
TOPMed gnomAD |
|
rs1202724853 | 901 | K>E | No |
TOPMed gnomAD |
|
rs780879734 | 905 | Q>E | No | ExAC | |
rs1572234752 COSM459671 COSM459670 |
907 | E>K | cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1007946658 | 908 | R>L | No |
TOPMed gnomAD |
|
rs1007946658 | 908 | R>Q | No |
TOPMed gnomAD |
|
rs1663835527 | 917 | I>N | No | TOPMed | |
rs1663835387 | 918 | T>A | No | TOPMed | |
rs1047372976 | 922 | A>G | No | Ensembl | |
rs780783659 | 923 | D>G | No |
ExAC gnomAD |
|
rs747734227 | 923 | D>H | No |
ExAC TOPMed gnomAD |
|
rs933002470 | 927 | L>M | No |
TOPMed gnomAD |
|
rs746750103 | 928 | A>V | No |
ExAC gnomAD |
|
rs1663834219 | 929 | R>C | No | TOPMed | |
rs1216521636 | 929 | R>H | No |
TOPMed gnomAD |
|
rs779832331 | 931 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1363188043 | 932 | A>D | No | Ensembl | |
rs1663833777 | 932 | A>S | No | Ensembl | |
rs1363188043 | 932 | A>V | No | Ensembl | |
TCGA novel | 933 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1283929166 | 934 | E>Q | No | gnomAD | |
rs1243257279 | 940 | E>K | No | gnomAD | |
TCGA novel | 941 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1385540412 | 945 | M>L | No |
TOPMed gnomAD |
|
rs1385540412 | 945 | M>V | No |
TOPMed gnomAD |
|
rs778962436 | 947 | E>D | No |
ExAC gnomAD |
|
rs923187286 COSM297076 COSM297075 |
949 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs1398894342 | 950 | I>L | No |
TOPMed gnomAD |
|
COSM5984440 COSM5984441 |
950 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663832164 | 950 | I>N | No | TOPMed | |
rs1398894342 | 950 | I>V | No |
TOPMed gnomAD |
|
rs1419770335 | 951 | K>E | No | Ensembl | |
rs1326472465 | 953 | M>L | No | gnomAD | |
rs1380168482 | 953 | M>T | No |
TOPMed gnomAD |
|
rs753685005 | 955 | A>D | No | gnomAD | |
rs1396954585 | 957 | H>N | No |
TOPMed gnomAD |
|
rs1396954585 | 957 | H>Y | No |
TOPMed gnomAD |
|
rs1572234348 | 959 | Q>R | No | Ensembl | |
rs1663830807 | 960 | E>D | No | gnomAD | |
RCV000709859 rs1558285391 |
960 | E>Q | No |
ClinVar Ensembl dbSNP |
|
rs752852649 | 962 | T>K | No |
ExAC TOPMed gnomAD |
|
rs752852649 | 962 | T>M | No |
ExAC TOPMed gnomAD |
|
rs752852649 | 962 | T>R | No |
ExAC TOPMed gnomAD |
|
rs1277347871 | 966 | A>G | No |
TOPMed gnomAD |
|
rs1663829692 | 967 | T>A | No | Ensembl | |
rs202027620 | 967 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1387079391 | 968 | I>V | No | gnomAD | |
rs914402873 | 969 | A>D | No | TOPMed | |
rs1184101548 | 969 | A>T | No | gnomAD | |
TCGA novel | 970 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs768232919 | 972 | E>G | No |
ExAC gnomAD |
|
rs1195128763 | 973 | E>D | No |
TOPMed gnomAD |
|
rs1423756088 | 974 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs1470546786 | 976 | R>S | No | gnomAD | |
COSM1005594 COSM1005596 |
978 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201098449 COSM3565358 COSM3565359 |
979 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs201098449 | 979 | T>S | No |
ExAC gnomAD |
|
rs1663734677 | 980 | S>N | No | Ensembl | |
rs1663734677 | 980 | S>T | No | Ensembl | |
rs1663734387 | 982 | V>F | No | Ensembl | |
rs1273601241 | 984 | N>S | No | TOPMed | |
rs771745893 | 984 | N>Y | No |
ExAC gnomAD |
|
TCGA novel | 987 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1663733167 | 989 | K>R | No | Ensembl | |
COSM263415 COSM263414 |
991 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 993 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1292908739 | 993 | N>S | No | gnomAD | |
rs371229171 | 994 | N>D | No |
ESP ExAC gnomAD |
|
TCGA novel | 994 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs371229171 | 994 | N>Y | No |
ESP ExAC gnomAD |
|
rs1663731937 | 995 | K>Q | No | TOPMed | |
rs1352070438 | 997 | K>N | No | gnomAD | |
rs1663731670 | 1000 | Q>E | No |
TOPMed gnomAD |
|
COSM1005593 COSM1005591 |
1000 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1002 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1325175849 | 1003 | L>R | No | gnomAD | |
COSM3836612 COSM3836613 |
1004 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1294174587 | 1005 | R>G | No |
TOPMed gnomAD |
|
TCGA novel | 1010 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs770703754 | 1010 | E>K | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1010 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs372763637 | 1013 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs369183934 | 1013 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1572230823 | 1014 | A>V | No | Ensembl | |
rs1431335544 | 1015 | A>S | No |
TOPMed gnomAD |
|
rs1431335544 | 1015 | A>T | No |
TOPMed gnomAD |
|
rs201466826 | 1016 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1429357124 | 1016 | I>V | No | Ensembl | |
rs747125111 | 1017 | K>E | No |
ExAC gnomAD |
|
rs780090672 | 1018 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1430323167 | 1022 | K>R | No | gnomAD | |
rs2148039459 | 1023 | Q>R | No | Ensembl | |
rs1242005227 | 1032 | T>A | No | gnomAD | |
rs1289562093 | 1034 | A>V | No | gnomAD | |
TCGA novel | 1036 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1039 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs371560170 | 1041 | I>T | No |
ESP gnomAD |
|
TCGA novel | 1046 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1663691391 | 1047 | P>R | No | TOPMed | |
rs367991548 | 1048 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs367991548 | 1048 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1389906156 | 1049 | K>T | No | gnomAD | |
rs1663690913 | 1050 | R>C | No | Ensembl | |
rs761639386 | 1050 | R>H | No |
ExAC TOPMed gnomAD |
|
rs766176402 | 1051 | G>D | No |
ExAC gnomAD |
|
rs1166043025 | 1056 | V>M | No | gnomAD | |
rs1663689932 | 1057 | R>W | No |
TOPMed gnomAD |
|
TCGA novel | 1059 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1416784787 COSM277096 COSM277095 |
1062 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1663689054 | 1063 | N>T | No | TOPMed | |
rs542366653 | 1067 | H>R | No |
TOPMed gnomAD |
|
TCGA novel rs1663688316 |
1072 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1439267406 COSM3723415 COSM3723416 |
1074 | R>C | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated TOPMed |
rs1663687806 | 1074 | R>H | No | TOPMed | |
COSM3836610 COSM3836611 |
1076 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772167443 | 1077 | L>M | No |
ExAC gnomAD |
|
rs34945852 VAR_057110 |
1083 | K>M | No |
UniProt Ensembl dbSNP |
|
rs2148038023 | 1084 | Y>C | No | 1000Genomes | |
rs376988314 COSM4850793 COSM4850792 |
1085 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
TCGA novel | 1087 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1005590 COSM1005588 |
1088 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1398817 COSM1398818 |
1090 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs371742171 | 1091 | M>V | No |
ESP ExAC gnomAD |
|
COSM1005587 COSM1005585 |
1093 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1326185996 | 1099 | S>C | No |
TOPMed gnomAD |
|
COSM1005584 rs1316869717 COSM1005582 |
1100 | Q>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
rs751063624 | 1101 | I>V | No |
ExAC gnomAD |
|
rs867914323 COSM1005579 COSM1005581 |
1102 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs766071383 | 1102 | R>L | No |
ExAC gnomAD |
|
rs766071383 | 1102 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1048040636 | 1108 | T>A | No |
TOPMed gnomAD |
|
TCGA novel | 1114 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765108740 | 1120 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs867731618 | 1120 | R>W | No | Ensembl | |
rs531693023 | 1122 | Q>L | No |
ExAC TOPMed gnomAD |
|
rs759608106 | 1124 | Q>R | No |
ExAC gnomAD |
|
rs759845445 | 1127 | H>P | No |
ExAC TOPMed gnomAD |
|
rs759845445 | 1127 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1203184488 | 1127 | H>Y | No | gnomAD | |
TCGA novel rs1663675117 |
1131 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs930986389 | 1132 | S>N | No | Ensembl | |
rs535318717 | 1133 | S>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1204491860 | 1133 | S>Y | No | gnomAD | |
rs1260360741 | 1134 | S>I | No | TOPMed | |
rs781695369 | 1135 | I>T | No |
ExAC gnomAD |
|
rs1230284027 | 1135 | I>V | No | gnomAD | |
rs1279619968 | 1137 | S>G | No | gnomAD | |
rs755463270 | 1137 | S>N | No |
ExAC TOPMed gnomAD |
|
rs369090525 | 1142 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs912389077 | 1145 | D>G | No | gnomAD | |
rs912389077 | 1145 | D>V | No | gnomAD | |
rs200853375 | 1147 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3565356 COSM3565357 |
1149 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663576460 | 1150 | E>G | No | gnomAD | |
rs867412495 | 1151 | S>L | No | Ensembl | |
COSM1005576 COSM1005578 |
1152 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs898495782 | 1153 | L>* | No | Ensembl | |
rs1663575415 | 1157 | L>F | No | TOPMed | |
rs1663575064 | 1161 | V>I | No | TOPMed | |
rs1163971067 | 1162 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
TCGA novel | 1162 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs866932722 | 1170 | W>L | No | Ensembl | |
rs769131010 | 1171 | V>G | No |
ExAC TOPMed gnomAD |
|
rs1231438319 | 1171 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1335366531 | 1172 | K>R | No | Ensembl | |
rs762981787 | 1174 | Y>C | No |
ExAC gnomAD |
|
COSM263413 COSM263412 |
1183 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1490933675 | 1183 | L>I | No |
TOPMed gnomAD |
|
COSM441004 COSM441003 |
1187 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761936331 | 1190 | D>H | No |
ExAC gnomAD |
|
COSM1005575 COSM1005573 |
1192 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
VAR_041064 | 1194 | S>P | a metastatic melanoma sample; somatic mutation [UniProt] | No | UniProt |
rs1051085519 | 1195 | N>S | No |
TOPMed gnomAD |
|
TCGA novel | 1197 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1225126910 | 1197 | Y>C | No | gnomAD | |
rs1281437156 | 1197 | Y>H | No | gnomAD | |
rs1329498175 | 1199 | V>I | No | gnomAD | |
rs55839233 | 1202 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1663540553 | 1203 | D>H | No | gnomAD | |
rs753975729 | 1205 | L>V | No |
ExAC gnomAD |
|
rs1663525144 | 1206 | F>C | No | Ensembl | |
TCGA novel | 1207 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs764405852 | 1209 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs995767688 | 1209 | R>Q | No |
TOPMed gnomAD |
|
rs369537192 | 1210 | P>S | No |
ESP ExAC gnomAD |
|
rs778488016 | 1217 | Y>* | No | Ensembl | |
rs1663523299 | 1221 | A>G | No | Ensembl | |
rs1663523158 | 1223 | E>G | No | Ensembl | |
COSM1305561 COSM1305562 |
1226 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel rs1181374829 |
1228 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1289495577 | 1232 | Y>N | No | gnomAD | |
rs2148030971 | 1233 | A>G | No | Ensembl | |
rs1247131322 | 1234 | N>K | No | gnomAD | |
rs1322385537 | 1239 | K>R | No | gnomAD | |
rs267598835 | 1240 | K>Q | No | Ensembl | |
rs866465002 | 1240 | K>R | No | Ensembl | |
rs1558277937 RCV000754891 |
1242 | Q>* | No |
ClinVar Ensembl dbSNP |
|
COSM1005561 COSM1005559 |
1243 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1306593128 | 1245 | P>L | No | gnomAD | |
rs1222242642 | 1246 | V>A | No | gnomAD | |
rs766991543 | 1249 | V>A | No |
TOPMed gnomAD |
|
rs760978628 | 1250 | G>R | No |
ExAC gnomAD |
|
rs2148030906 | 1255 | Y>C | No | 1000Genomes | |
rs753030793 | 1256 | I>V | No |
ExAC TOPMed gnomAD |
|
rs552881592 | 1257 | C>G | No |
1000Genomes ExAC gnomAD |
|
rs1209477310 | 1258 | H>L | No |
TOPMed gnomAD |
|
rs760031303 | 1258 | H>Y | No |
ExAC gnomAD |
|
rs1647896792 | 1259 | K>E | No | TOPMed | |
COSM1398809 COSM1398808 |
1259 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1368498336 | 1262 | E>Q | No | gnomAD | |
rs1663471424 | 1263 | F>S | No | Ensembl | |
rs1416879926 | 1265 | P>S | No |
TOPMed gnomAD |
|
COSM1005558 rs772794414 COSM1005556 |
1267 | L>F | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1558277806 | 1271 | P>L | No | Ensembl | |
COSM3565346 COSM3565345 |
1271 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747795771 | 1272 | T>A | No |
ExAC gnomAD |
|
rs747795771 | 1272 | T>P | No |
ExAC gnomAD |
|
rs1211516018 | 1273 | N>D | No | gnomAD | |
rs376050005 | 1278 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
rs989861341 | 1280 | P>A | No | Ensembl | |
TCGA novel | 1282 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1572222394 | 1284 | M>I | No | Ensembl | |
rs1213934825 | 1285 | F>S | No | gnomAD | |
rs1572222366 | 1293 | C>S | No | Ensembl | |
rs527957824 | 1294 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs527957824 | 1294 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1344004974 COSM5042713 COSM5042714 |
1294 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs201228597 | 1295 | R>C | No | TOPMed | |
TCGA novel | 1295 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2148030695 | 1295 | R>H | No | Ensembl | |
rs201228597 | 1295 | R>S | No | TOPMed | |
COSM1005553 COSM1005551 |
1300 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1363186030 | 1305 | M>I | No | TOPMed | |
TCGA novel | 1305 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs779803586 | 1307 | K>R | No |
ExAC TOPMed gnomAD |
|
COSM3039741 COSM3039742 |
1308 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663465678 | 1308 | K>T | No | gnomAD | |
COSM4722383 COSM4722382 |
1309 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663464909 | 1312 | I>T | No | Ensembl | |
rs1572222260 | 1314 | P>R | No | TOPMed | |
COSM459673 rs1663464740 COSM459672 |
1314 | P>S | cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1303070421 | 1315 | C>R | No |
TOPMed gnomAD |
|
TCGA novel | 1317 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs773775703 | 1318 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs773775703 | 1318 | Y>F | No |
ExAC TOPMed gnomAD |
|
rs1366678124 | 1319 | Y>C | No | gnomAD | |
rs764703058 | 1321 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs761352733 | 1323 | T>A | No |
ExAC gnomAD |
|
rs775328443 | 1323 | T>M | No |
ExAC TOPMed gnomAD |
|
COSM3039734 COSM3039733 |
1325 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1016022786 | 1326 | N>Y | No | Ensembl | |
rs1466357038 | 1327 | L>M | No | gnomAD | |
COSM4084251 COSM4084250 |
1327 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663457643 | 1331 | A>T | No | Ensembl | |
rs1663457510 | 1333 | S>C | No |
TOPMed gnomAD |
|
rs960536932 | 1334 | T>A | No | TOPMed | |
COSM6153678 COSM6153677 |
1337 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663457221 | 1337 | Q>R | No | gnomAD | |
rs1248648087 | 1339 | K>N | No | gnomAD | |
rs201801097 | 1339 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs771825593 | 1341 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1460194351 | 1342 | S>I | No |
TOPMed gnomAD |
|
rs1460194351 | 1342 | S>N | No |
TOPMed gnomAD |
|
COSM4133005 COSM4133004 rs745801053 |
1343 | R>Q | thyroid [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM3425114 COSM3425113 |
1343 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1047418299 | 1345 | V>E | No | Ensembl | |
rs374395637 | 1345 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1347 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1663455495 | 1348 | I>T | No | Ensembl | |
rs748271839 | 1349 | P>A | No |
ExAC TOPMed gnomAD |
|
COSM4084249 COSM4084248 |
1349 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs748271839 | 1349 | P>S | No |
ExAC TOPMed gnomAD |
|
COSM1398807 COSM1398806 |
1351 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1663454822 | 1352 | P>S | No | TOPMed | |
rs1572221848 | 1353 | P>A | No | Ensembl | |
rs968013894 | 1353 | P>L | No | TOPMed | |
rs1572221848 | 1353 | P>S | No | Ensembl | |
COSM1398804 COSM1398805 |
1353 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751806275 | 1354 | A>P | No |
ExAC TOPMed gnomAD |
|
rs751806275 | 1354 | A>S | No |
ExAC TOPMed gnomAD |
|
rs766761794 | 1354 | A>V | No |
ExAC gnomAD |
|
COSM3565341 COSM3565342 |
1357 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3723417 COSM3723418 rs1558277230 |
1360 | R>* | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
rs758748287 | 1360 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM3960992 COSM3960991 |
1361 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1266713911 | 1362 | S>P | No |
TOPMed gnomAD |
|
rs750898507 | 1363 | P>L | No |
ExAC gnomAD |
|
rs1166645564 | 1363 | P>S | No | gnomAD | |
rs1390697544 COSM441000 COSM441001 |
1364 | R>T | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs770509824 | 1366 | S>* | No | Ensembl | |
rs1322913055 | 1367 | M>T | No | gnomAD | |
rs200825805 | 1367 | M>V | No |
ExAC TOPMed gnomAD |
|
rs761262690 | 1369 | I>M | No |
ExAC TOPMed gnomAD |
|
rs1663451993 | 1369 | I>V | No | TOPMed | |
rs2148030075 | 1370 | Q>R | No | Ensembl | |
rs1663451532 | 1372 | N>D | No | Ensembl | |
rs1426209431 | 1372 | N>K | No | TOPMed | |
TCGA novel | 1372 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs760366234 | 1374 | S>C | No |
ExAC gnomAD |
|
rs1663451050 | 1374 | S>P | No | TOPMed | |
rs1663450720 | 1375 | I>F | No | Ensembl | |
rs1663450720 | 1375 | I>V | No | Ensembl | |
rs1483703733 | 1377 | R>Q | No | gnomAD | |
rs1207941601 | 1377 | R>W | No |
TOPMed gnomAD |
|
COSM2157014 COSM2157015 |
1379 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1224122 rs374630605 COSM1224121 |
1380 | R>Q | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC gnomAD |
rs745564499 | 1381 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs1663449638 | 1381 | Q>R | No | Ensembl | |
rs1285619301 | 1383 | A>T | No | gnomAD | |
rs771017362 | 1384 | P>S | No |
ExAC gnomAD |
|
rs1319487607 | 1385 | N>D | No | gnomAD | |
rs1663448844 | 1385 | N>S | No | Ensembl | |
rs1306014561 | 1387 | P>L | No |
TOPMed gnomAD |
No associated diseases with O75116
10 regional properties for O75116
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 92 - 354 | IPR000719 |
domain | AGC-kinase, C-terminal | 357 - 425 | IPR000961 |
domain | Pleckstrin homology domain | 1150 - 1351 | IPR001849 |
domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 1260 - 1315 | IPR002219 |
active_site | Serine/threonine-protein kinase, active site | 210 - 222 | IPR008271 |
domain | HR1 rho-binding domain | 497 - 573 | IPR011072 |
domain | ROCK, Rho binding domain | 978 - 1047 | IPR015008 |
binding_site | Protein kinase, ATP binding site | 98 - 121 | IPR017441 |
domain | Rho-associated protein kinase 2, catalytic domain | 39 - 417 | IPR029878 |
domain | Rho-associated protein kinase 2, HR1 domain | 505 - 571 | IPR037311 |
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 |
7 GO annotations of cellular component
Name | Definition |
---|---|
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
12 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
endopeptidase activator activity | Binds to and increases the activity of an endopeptidase. |
metal ion binding | Binding to a metal ion. |
protease binding | Binding to a protease or a peptidase. |
protein serine kinase activity | Catalysis of the reactions |
protein serine/threonine kinase activity | Catalysis of the reactions |
Rho-dependent protein serine/threonine kinase activity | Rho GTPase-dependent catalysis of the reaction |
RNA binding | Binding to an RNA molecule or a portion thereof. |
small GTPase binding | Binding to a small monomeric GTPase. |
structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex. |
tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
tau-protein kinase activity | Catalysis of the reaction |
56 GO annotations of biological process
Name | Definition |
---|---|
actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
aortic valve morphogenesis | The process in which the structure of the aortic valve is generated and organized. |
blood vessel diameter maintenance | Any process that modulates the diameter of blood vessels. |
canonical NF-kappaB signal transduction | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
cellular response to acetylcholine | 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 an acetylcholine stimulus. |
cellular response to testosterone stimulus | 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 a testosterone stimulus. |
centrosome duplication | The replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized. |
cortical actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
embryonic morphogenesis | The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. |
epithelial to mesenchymal transition | A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
modulation by host of viral process | A process in which a host organism modulates the frequency, rate or extent of any of a process being mediated by a virus with which it is infected. |
mRNA destabilization | Any process that decreases the stability of an mRNA molecule, making it more vulnerable to degradative processes. Messenger RNA is the intermediate molecule between DNA and protein. It includes UTR and coding sequences. It does not contain introns. |
negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
negative regulation of bicellular tight junction assembly | Any process that stops, prevents or reduces the frequency, rate or extent of tight junction assembly. |
negative regulation of biomineral tissue development | Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. |
negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
negative regulation of myosin-light-chain-phosphatase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of myosin-light-chain-phosphatase activity. |
negative regulation of nitric oxide biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide. |
negative regulation of protein localization to lysosome | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to lysosome. |
positive regulation of amyloid precursor protein catabolic process | Any process that activates or increases the frequency, rate or extent of amyloid precursor protein catabolic process. |
positive regulation of amyloid-beta formation | Any process that activates or increases the frequency, rate or extent of amyloid-beta formation. |
positive regulation of cardiac muscle hypertrophy | Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. |
positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
positive regulation of centrosome duplication | Any process that increases the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized. |
positive regulation of connective tissue growth factor production | Any process that activates or increases the frequency, rate, or extent of connective tissue growth factor production. |
positive regulation of connective tissue replacement | Any process that activates or increases the frequency, rate or extent of connective tissue replacement. |
positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
positive regulation of fibroblast growth factor production | Any process that increases the rate, frequency or extent of the appearance of a fibroblast growth factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
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 protein localization to early endosome | Any process that activates or increases the frequency, rate or extent of protein localization to early endosome. |
positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
regulation of angiotensin-activated signaling pathway | Any process that modulates the frequency, rate or extent of the angiotensin-activated signaling pathway. |
regulation of cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. |
regulation of cell junction assembly | Any process that modulates the frequency, rate or extent of cell junction assembly. |
regulation of cell motility | Any process that modulates the frequency, rate or extent of cell motility. |
regulation of cellular response to hypoxia | Any process that modulates the frequency, rate or extent of cellular response to hypoxia. |
regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
regulation of establishment of cell polarity | Any process that modulates the frequency, rate or extent of establishment of cell polarity. |
regulation of establishment of endothelial barrier | Any process that modulates the frequency, rate or extent of establishment of endothelial barrier. |
regulation of focal adhesion assembly | Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions. |
regulation of keratinocyte differentiation | Any process that modulates the frequency, rate or extent of keratinocyte differentiation. |
regulation of nervous system process | Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system. |
regulation of stress fiber assembly | Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
response to angiotensin | 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 angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen. |
response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
response to transforming growth factor beta | 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 transforming growth factor beta stimulus. |
Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
smooth muscle contraction | A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. |
15 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q28021 | ROCK2 | Rho-associated protein kinase 2 | Bos taurus (Bovine) | SS |
Q9W1B0 | gek | Serine/threonine-protein kinase Genghis Khan | Drosophila melanogaster (Fruit fly) | SS |
Q13464 | ROCK1 | Rho-associated protein kinase 1 | Homo sapiens (Human) | SS |
Q9Y5S2 | CDC42BPB | Serine/threonine-protein kinase MRCK beta | Homo sapiens (Human) | SS |
Q5VT25 | CDC42BPA | Serine/threonine-protein kinase MRCK alpha | Homo sapiens (Human) | EV |
Q3UU96 | Cdc42bpa | Serine/threonine-protein kinase MRCK alpha | Mus musculus (Mouse) | SS |
P70335 | Rock1 | Rho-associated protein kinase 1 | Mus musculus (Mouse) | SS |
Q80UW5 | Cdc42bpg | Serine/threonine-protein kinase MRCK gamma | Mus musculus (Mouse) | PR |
Q7TT50 | Cdc42bpb | Serine/threonine-protein kinase MRCK beta | Mus musculus (Mouse) | SS |
P70336 | Rock2 | Rho-associated protein kinase 2 | Mus musculus (Mouse) | SS |
M3TYT0 | ROCK2 | Rho-associated protein kinase 2 | Sus scrofa (Pig) | SS |
O54874 | Cdc42bpa | Serine/threonine-protein kinase MRCK alpha | Rattus norvegicus (Rat) | SS |
Q63644 | Rock1 | Rho-associated protein kinase 1 | Rattus norvegicus (Rat) | SS |
Q7TT49 | Cdc42bpb | Serine/threonine-protein kinase MRCK beta | Rattus norvegicus (Rat) | SS |
Q62868 | Rock2 | Rho-associated protein kinase 2 | Rattus norvegicus (Rat) | EV |
10 | 20 | 30 | 40 | 50 | 60 |
MSRPPPTGKM | PGAPETAPGD | GAGASRQRKL | EALIRDPRSP | INVESLLDGL | NSLVLDLDFP |
70 | 80 | 90 | 100 | 110 | 120 |
ALRKNKNIDN | FLNRYEKIVK | KIRGLQMKAE | DYDVVKVIGR | GAFGEVQLVR | HKASQKVYAM |
130 | 140 | 150 | 160 | 170 | 180 |
KLLSKFEMIK | RSDSAFFWEE | RDIMAFANSP | WVVQLFYAFQ | DDRYLYMVME | YMPGGDLVNL |
190 | 200 | 210 | 220 | 230 | 240 |
MSNYDVPEKW | AKFYTAEVVL | ALDAIHSMGL | IHRDVKPDNM | LLDKHGHLKL | ADFGTCMKMD |
250 | 260 | 270 | 280 | 290 | 300 |
ETGMVHCDTA | VGTPDYISPE | VLKSQGGDGF | YGRECDWWSV | GVFLYEMLVG | DTPFYADSLV |
310 | 320 | 330 | 340 | 350 | 360 |
GTYSKIMDHK | NSLCFPEDAE | ISKHAKNLIC | AFLTDREVRL | GRNGVEEIRQ | HPFFKNDQWH |
370 | 380 | 390 | 400 | 410 | 420 |
WDNIRETAAP | VVPELSSDID | SSNFDDIEDD | KGDVETFPIP | KAFVGNQLPF | IGFTYYRENL |
430 | 440 | 450 | 460 | 470 | 480 |
LLSDSPSCRE | TDSIQSRKNE | ESQEIQKKLY | TLEEHLSNEM | QAKEELEQKC | KSVNTRLEKT |
490 | 500 | 510 | 520 | 530 | 540 |
AKELEEEITL | RKSVESALRQ | LEREKALLQH | KNAEYQRKAD | HEADKKRNLE | NDVNSLKDQL |
550 | 560 | 570 | 580 | 590 | 600 |
EDLKKRNQNS | QISTEKVNQL | QRQLDETNAL | LRTESDTAAR | LRKTQAESSK | QIQQLESNNR |
610 | 620 | 630 | 640 | 650 | 660 |
DLQDKNCLLE | TAKLKLEKEF | INLQSALESE | RRDRTHGSEI | INDLQGRICG | LEEDLKNGKI |
670 | 680 | 690 | 700 | 710 | 720 |
LLAKVELEKR | QLQERFTDLE | KEKSNMEIDM | TYQLKVIQQS | LEQEEAEHKA | TKARLADKNK |
730 | 740 | 750 | 760 | 770 | 780 |
IYESIEEAKS | EAMKEMEKKL | LEERTLKQKV | ENLLLEAEKR | CSLLDCDLKQ | SQQKINELLK |
790 | 800 | 810 | 820 | 830 | 840 |
QKDVLNEDVR | NLTLKIEQET | QKRCLTQNDL | KMQTQQVNTL | KMSEKQLKQE | NNHLMEMKMN |
850 | 860 | 870 | 880 | 890 | 900 |
LEKQNAELRK | ERQDADGQMK | ELQDQLEAEQ | YFSTLYKTQV | RELKEECEEK | TKLGKELQQK |
910 | 920 | 930 | 940 | 950 | 960 |
KQELQDERDS | LAAQLEITLT | KADSEQLARS | IAEEQYSDLE | KEKIMKELEI | KEMMARHKQE |
970 | 980 | 990 | 1000 | 1010 | 1020 |
LTEKDATIAS | LEETNRTLTS | DVANLANEKE | ELNNKLKDVQ | EQLSRLKDEE | ISAAAIKAQF |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
EKQLLTERTL | KTQAVNKLAE | IMNRKEPVKR | GNDTDVRRKE | KENRKLHMEL | KSEREKLTQQ |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
MIKYQKELNE | MQAQIAEESQ | IRIELQMTLD | SKDSDIEQLR | SQLQALHIGL | DSSSIGSGPG |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
DAEADDGFPE | SRLEGWLSLP | VRNNTKKFGW | VKKYVIVSSK | KILFYDSEQD | KEQSNPYMVL |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
DIDKLFHVRP | VTQTDVYRAD | AKEIPRIFQI | LYANEGESKK | EQEFPVEPVG | EKSNYICHKG |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
HEFIPTLYHF | PTNCEACMKP | LWHMFKPPPA | LECRRCHIKC | HKDHMDKKEE | IIAPCKVYYD |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
ISTAKNLLLL | ANSTEEQQKW | VSRLVKKIPK | KPPAPDPFAR | SSPRTSMKIQ | QNQSIRRPSR |
QLAPNKPS |