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

2 papers

NM_182643.3

p.E180A

c.539A>C

Surrounding Variants

1 paper

NM_182643.3

p.D185N

c.553G>A

1 paper

NM_182643.3

p.V175A

c.524T>C

1 paper

NM_182643.3

p.S186T

c.556T>A

1 paper

NM_182643.3

p.L172F

c.516A>T

1 paper

NM_182643.3

p.L172F

c.516A>C

1 paper

NM_182643.3

p.T170I

c.509C>T

2 papers

NM_182643.3

p.E196K

c.586G>A

1 paper

NM_182643.3

p.S163C

c.488C>G

1 paper

NM_182643.3

p.E148V

c.443A>T

1 paper

NM_182643.3

p.G145C

c.433G>T

1 paper

NM_182643.3

p.A220V

c.659C>T

1 paper

NM_182643.3

p.P221H

c.662C>A