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.P261L

c.782C>T

Surrounding Variants

3 papers

NM_182643.3

p.T260I

c.779C>T

2 papers

NM_182643.3

p.D259N

c.775G>A

1 paper

NM_182643.3

p.R265K

c.794G>A

2 papers

NM_182643.3

p.G266E

c.797G>A

4 papers

NM_182643.3

p.N255D

c.763A>G

4 papers

NM_182643.3

p.Q254_N255delins

c.762_763delinsCG

4 papers

NM_182643.3

p.Q254H

c.762A>T

4 papers

NM_182643.3

p.Q254H

c.762A>C

1 paper

NM_182643.3

p.F274V

c.820T>G

1 paper

NM_182643.3

p.G275E

c.824G>A

1 paper

NM_182643.3

p.N245S

c.734A>G

1 paper

NM_182643.3

p.K242fs

c.724_725fs