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.E964G

c.2891A>G

Surrounding Variants

1 paper

NM_005406.3

p.N959fs

c.2875_2876fs

1 paper

NM_005406.3

p.E958_N959delFs

c.2874_2875delTC

1 paper

NM_005406.3

p.L955*

c.2864T>G

1 paper

NM_005406.3

p.L955*

c.2864T>A

1 paper

NM_005406.3

p.I952M

c.2856T>G

2 papers

NM_005406.3

p.I952T

c.2855T>C

1 paper

NM_005406.3

p.T949I

c.2846C>T

1 paper

NM_005406.3

p.N945delFs

c.2834delT

1 paper

NM_005406.3

p.E942G

c.2825A>G

1 paper

NM_005406.3

p.E942K

c.2824G>A

1 paper

NM_005406.3

p.E972Splc

c.2915-5G>A

1 paper

NM_005406.3

p.Y973F

c.2918A>T