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

2 papers

NM_005406.3

p.F121insFs

c.362dupT

Surrounding Variants

1 paper

NM_005406.3

p.F121fs

c.361_362fs

1 paper

NM_005406.3

p.W122fs

c.364_365fs

1 paper

NM_005406.3

p.A119T

c.355G>A

1 paper

NM_005406.3

p.A129D

c.386C>A

1 paper

NM_005406.3

p.F110S

c.329T>C

1 paper

NM_005406.3

p.K109E

c.325A>G

1 paper

NM_005406.3

p.R94_M104del11

c.280_311del33

1 paper

NM_005406.3

p.Q91R

c.272A>G

1 paper

NM_005406.3

p.G88V

c.263G>T

1 paper

NM_005406.3

p.Y76D

c.226T>G

1 paper

NM_005406.3

p.Y76H

c.226T>C

1 paper

NM_005406.3

p.M71I

c.213G>T