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.R918Q

c.2753G>A

Surrounding Variants

1 paper

NM_182643.3

p.R918W

c.2752C>T

1 paper

NM_182643.3

p.Q917H

c.2751G>T

1 paper

NM_182643.3

p.Q917H

c.2751G>C

1 paper

NM_182643.3

p.V920I

c.2758G>A

1 paper

NM_182643.3

p.S924L

c.2771C>T

1 paper

NM_182643.3

p.E925D

c.2775G>T

1 paper

NM_182643.3

p.E925D

c.2775G>C

1 paper

NM_182643.3

p.G931*

c.2791G>T

1 paper

NM_182643.3

p.S933L

c.2798C>T

1 paper

NM_182643.3

p.E900K

c.2698G>A

1 paper

NM_182643.3

p.L894P

c.2681T>C

1 paper

NM_182643.3

p.L952V

c.2854C>G