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.R595H

c.1784G>A

Surrounding Variants

1 paper

NM_182643.3

p.S602C

c.1804A>T

1 paper

NM_182643.3

p.A607A

c.1821G>T

1 paper

NM_182643.3

p.T581M

c.1742C>T

1 paper

NM_182643.3

p.P609R

c.1826C>G

1 paper

NM_182643.3

p.A613V

c.1838C>T

1 paper

NM_182643.3

p.P576R

c.1727C>G

1 paper

NM_182643.3

p.A614D

c.1841C>A

1 paper

NM_182643.3

p.S623T

c.1868G>C

1 paper

NM_182643.3

p.S623N

c.1868G>A

1 paper

NM_006094.5

p.P127L

c.380C>T

2 papers

NM_182643.3

p.D561E

c.1683C>G

1 paper

NM_182643.3

p.D561E

c.1683C>A