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

3 papers

NM_005406.3

p.K1307fs

c.3919_3920fs

Surrounding Variants

3 papers

NM_005406.3

p.K1307delFs

c.3921delT

1 paper

NM_005406.3

p.K1307fs

c.3919_3920fs

1 paper

NM_005406.3

p.W1308fs

c.3922_3923fs

1 paper

NM_005406.3

p.H1311Y

c.3931C>T

1 paper

NM_005406.3

p.P1317S

c.3949C>T

1 paper

NM_005406.3

p.N1319I

c.3956A>T

1 paper

NM_005406.3

p.R1326H

c.3977G>A

3 papers

NM_005406.3

p.T1331M

c.3992C>T

1 paper

NM_005406.3

p.T1337_A1338del2

c.4009_4013del6

2 papers

NM_005406.3

p.Q1340E

c.4018C>G

1 paper

NM_005406.3

p.S1341T

c.4021T>A

2 papers

NM_005406.3

p.R1343Q

c.4028G>A