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.A220V

c.659C>T

Surrounding Variants

1 paper

NM_182643.3

p.P221H

c.662C>A

1 paper

NM_182643.3

p.R236M

c.707G>T

1 paper

NM_182643.3

p.P241fs

c.721_722fs

4 papers

NM_182643.3

p.P241A

c.721C>G

1 paper

NM_182643.3

p.P241delFs

c.722delG

1 paper

NM_182643.3

p.K242fs

c.724_725fs

2 papers

NM_182643.3

p.E196K

c.586G>A

1 paper

NM_182643.3

p.N245S

c.734A>G

1 paper

NM_182643.3

p.S186T

c.556T>A

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