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

1 paper

NM_005406.3

p.M14fs

c.40_41fs

Surrounding Variants

1 paper

NM_005406.3

p.D15insFs

c.45dupC

2 papers

NM_005406.3

p.N16S

c.47A>G

1 paper

NM_005406.3

p.R10R

c.30A>C

1 paper

NM_005406.3

p.S6insFs

c.18dupT

1 paper

NM_005406.3

p.C29S

c.85T>A

1 paper

NM_005406.3

p.C29S

c.86G>C