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.L119S

c.356T>C

Surrounding Variants

1 paper

NM_182643.3

p.N116_D118del0

c.346_354del9

1 paper

NM_182643.3

p.D114Y

c.340G>T

1 paper

NM_182643.3

p.E113D

c.339G>T

1 paper

NM_182643.3

p.E113D

c.339G>C

1 paper

NM_182643.3

p.E113K

c.337G>A

1 paper

NM_182643.3

p.D112A

c.335A>C

1 paper

NM_182643.3

p.S111Y

c.332C>A

1 paper

NM_182643.3

p.L107L

c.319C>T

1 paper

NM_182643.3

p.A102A

c.306C>G

1 paper

NM_182643.3

p.S99A

c.295T>G

1 paper

NM_182643.3

p.Q96*

c.286C>T

1 paper

NM_182643.3

p.G145C

c.433G>T