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

6 papers

NM_006094.5

p.R947C

c.2839C>T

NM_182643.3

p.R1384C

c.4150C>T

Surrounding Variants

2 papers

NM_182643.3

p.L1385P

c.4154T>C

1 paper

NM_182643.3

p.V1371L

c.4111G>C

1 paper

NM_182643.3

p.S1399L

c.4196C>T

1 paper

NM_006094.5

p.L930P

c.2789T>C

3 papers

NM_006094.5

p.E966K

c.2896G>A

1 paper

NM_182643.3

p.D1406H

c.4216G>C

2 papers

NM_182643.3

p.K1358T

c.4073A>C

1 paper

NM_182643.3

p.K1357fs

c.4069_4070fs

1 paper

NM_182643.3

p.K1357insFs

c.4070_4071insA

1 paper

NM_182643.3

p.A1352V

c.4055C>T

1 paper

NM_006094.5

p.S912L

c.2735C>T

1 paper

NM_182643.3

p.G1342C

c.4024G>T