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.E181D

c.543A>T

Surrounding Variants

1 paper

NM_005406.3

p.E181D

c.543A>C

1 paper

NM_005406.3

p.E181G

c.542A>G

1 paper

NM_005406.3

p.R176*

c.526C>T

1 paper

NM_005406.3

p.R176G

c.526C>G

1 paper

NM_005406.3

p.A188T

c.562G>A

1 paper

NM_005406.3

p.H190L

c.569A>T

1 paper

NM_005406.3

p.D169N

c.505G>A

1 paper

NM_005406.3

p.I195T

c.584T>C

1 paper

NM_005406.3

p.V162A

c.485T>C

1 paper

NM_005406.3

p.G158V

c.473G>T

1 paper

NM_005406.3

p.R147H

c.440G>A

1 paper

NM_005406.3

p.R197Splc

c.591-81A>G