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.R8_S9insFs

c.24_25insT

Surrounding Variants

1 paper

NM_182643.3

p.W10L

c.29G>T

2 papers

NM_182643.3

p.W10*

c.29G>A

2 papers

NM_182643.3

p.W10*

c.30G>A

2 papers

NM_182643.3

p.E12*

c.34G>T

1 paper

NM_182643.3

p.A4D

c.11C>A

1 paper

NM_182643.3

p.N23D

c.67A>G

1 paper

NM_182643.3

p.R27C

c.79C>T

1 paper

NM_182643.3

p.N28delFs

c.82delT

1 paper

NM_182643.3

p.A30T

c.88G>A

1 paper

NM_182643.3

p.G34R

c.100G>C

1 paper

NM_182643.3

p.G34R

c.100G>A

1 paper

NM_182643.3

p.V36A

c.107T>C