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.I1198T

c.3593T>C

Surrounding Variants

1 paper

NM_005406.3

p.E1203*

c.3607G>T

1 paper

NM_005406.3

p.G1204S

c.3610G>A

1 paper

NM_005406.3

p.R1207I

c.3620G>T

1 paper

NM_005406.3

p.E1211Q

c.3631G>C

5 papers

NM_005406.3

p.Q1217E

c.3649C>G

1 paper

NM_005406.3

p.H1237Y

c.3709C>T

1 paper

NM_005406.3

p.K1194_I1195delFs

c.3582_3583delTT

1 paper

NM_005406.3

p.K1194*

c.3580A>T

2 papers

NM_005406.3

p.P1193S

c.3577C>T

1 paper

NM_005406.3

p.A1244fs

c.3730_3731fs

1 paper

NM_005406.3

p.K1247N

c.3741A>T

1 paper

NM_005406.3

p.K1247N

c.3741A>C