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

1–12 of 298 variants

7 papers

NM_182643.3

p.V791M

c.2371G>A

6 papers

NM_182643.3

p.S741T

c.2222G>C

5 papers

NM_182643.3

p.R351W

c.1051C>T

4 papers

NM_182643.3

p.P241A

c.721C>G

4 papers

NM_182643.3

p.Q254H

c.762A>T

4 papers

NM_182643.3

p.Q254H

c.762A>C

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.R1384C

c.4150C>T

3 papers

NM_182643.3

p.T260I

c.779C>T

3 papers

NM_006094.5

p.E966K

c.2896G>A

2 papers

NM_182643.3

p.W10*

c.29G>A