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.F1174V

c.3520T>G

Surrounding Variants

1 paper

NM_005406.3

p.F1174L

c.3520T>C

1 paper

NM_005406.3

p.F1174C

c.3521T>G

1 paper

NM_005406.3

p.F1174L

c.3522T>G

1 paper

NM_005406.3

p.F1174L

c.3522T>A

1 paper

NM_005406.3

p.H1175Y

c.3523C>T

1 paper

NM_005406.3

p.D1171G

c.3512A>G

1 paper

NM_005406.3

p.Y1185C

c.3554A>G

2 papers

NM_005406.3

p.P1193S

c.3577C>T

1 paper

NM_005406.3

p.K1194*

c.3580A>T

1 paper

NM_005406.3

p.K1194_I1195delFs

c.3582_3583delTT

1 paper

NM_005406.3

p.I1198T

c.3593T>C

1 paper

NM_005406.3

p.E1203*

c.3607G>T