Varaico: Literature-Extracted Genetic Variants

DLC1

231 papers

RefSeq Summary

This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate...

Pfam Domains

SAM_2aa 451–513UCSCSAM domain (Sterile alpha motif)

RhoGAPaa 1092–1238UCSCRhoGAP domain

STARTaa 1323–1522UCSCSTART domain

Gene Aliases

HGNC Name

DLC1 Rho GTPase activating protein

HGNC Alias Symbols

ARHGAP7; STARD12; DLC-1; p122-RhoGAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182643.3

p.R387W

c.1159C>T

Surrounding Variants

1 paper

NM_182643.3

p.R388Q

c.1163G>A

1 paper

NM_182643.3

p.H389H

c.1167C>T

1 paper

NM_182643.3

p.V390F

c.1168G>T

1 paper

NM_182643.3

p.S377C

c.1130C>G

1 paper

NM_182643.3

p.A372V

c.1115C>T

1 paper

NM_182643.3

p.D368N

c.1102G>A

1 paper

NM_182643.3

p.Q367*

c.1099C>T

1 paper

NM_182643.3

p.Q367K

c.1099C>A

1 paper

NM_182643.3

p.D366H

c.1096G>C

1 paper

NM_182643.3

p.L365V

c.1093C>G

1 paper

NM_182643.3

p.D363Y

c.1087G>T

1 paper

NM_182643.3

p.M360K

c.1079T>A