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

5 papers

NM_182643.3

p.R351W

c.1051C>T

Surrounding Variants

1 paper

NM_182643.3

p.R351Q

c.1052G>A

1 paper

NM_182643.3

p.A350V

c.1049C>T

1 paper

NM_182643.3

p.A350E

c.1049C>A

1 paper

NM_182643.3

p.A350T

c.1048G>A

1 paper

NM_182643.3

p.R349S

c.1047G>T

1 paper

NM_182643.3

p.R349S

c.1047G>C

1 paper

NM_182643.3

p.R347*

c.1039C>T

1 paper

NM_182643.3

p.D346_S354del9

c.1036_1061del27

1 paper

NM_182643.3

p.L357P

c.1070T>C

1 paper

NM_182643.3

p.M360K

c.1079T>A

1 paper

NM_182643.3

p.D363Y

c.1087G>T

1 paper

NM_182643.3

p.L365V

c.1093C>G