Varaico: Literature-Extracted Genetic Variants

ROCK1

240 papers

RefSeq Summary

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibrobla...

Pfam Domains

Pkinaseaa 76–338UCSCProtein kinase domain

Rho_Bindingaa 948–1014UCSCRho Binding

PH_MRCKaa 1118–1223UCSCMRCK kinase PH domain

Gene Aliases

HGNC Name

Rho associated coiled-coil containing protein kinase 1

HGNC Alias Symbol

p160ROCK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_005406.3

p.K222E

c.664A>G

Surrounding Variants

1 paper

NM_005406.3

p.K222N

c.666G>T

1 paper

NM_005406.3

p.K222N

c.666G>C

2 papers

NM_005406.3

p.M223I

c.669G>T

2 papers

NM_005406.3

p.M223I

c.669G>C

2 papers

NM_005406.3

p.M223I

c.669G>A

1 paper

NM_005406.3

p.G210A

c.629G>C

1 paper

NM_005406.3

p.R197Splc

c.591-81A>G

1 paper

NM_005406.3

p.I195T

c.584T>C

1 paper

NM_005406.3

p.H190L

c.569A>T

1 paper

NM_005406.3

p.A188T

c.562G>A

1 paper

NM_005406.3

p.E181D

c.543A>T

1 paper

NM_005406.3

p.E181D

c.543A>C