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

1–12 of 239 variants

5 papers

NM_005406.3

p.Q1217E

c.3649C>G

4 papers

NM_005406.3

p.K222E

c.664A>G

3 papers

NM_005406.3

p.R1091C

c.3271C>T

3 papers

NM_005406.3

p.T1112P

c.3334A>C

3 papers

NM_005406.3

p.K1307fs

c.3919_3920fs

3 papers

NM_005406.3

p.K1307delFs

c.3921delT

3 papers

NM_005406.3

p.T1331M

c.3992C>T

2 papers

NM_005406.3

p.N16S

c.47A>G

2 papers

NM_005406.3

p.R58S

c.174A>T

2 papers

NM_005406.3

p.F121insFs

c.362dupT

2 papers

NM_005406.3

p.M223I

c.669G>T

2 papers

NM_005406.3

p.M223I

c.669G>C