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

2 papers

NM_005406.3

p.R58S

c.174A>T

Surrounding Variants

1 paper

NM_005406.3

p.R58S

c.174A>C

1 paper

NM_005406.3

p.N49fs

c.145_146fs

1 paper

NM_005406.3

p.R47K

c.140G>A

1 paper

NM_005406.3

p.D40V

c.119A>T

1 paper

NM_005406.3

p.D32_D35delFs

c.94_104del11

1 paper

NM_005406.3

p.D32fs

c.94_95fs