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_006094.5

p.D671E

c.2013T>A

Surrounding Variants

1 paper

NM_006094.5

p.D671E

c.2013T>G

1 paper

NM_182643.3

p.C1106Y

c.3317G>A

1 paper

NM_182643.3

p.R1103Q

c.3308G>A

1 paper

NM_182643.3

p.Q1109_V1110Splc

c.3327+54G>C

1 paper

NM_182643.3

p.Q1089fs

c.3265_3266fs

1 paper

NM_182643.3

p.W1056Splc

c.3168-6T>C

1 paper

NM_006094.5

p.R684Q

c.2051G>A

1 paper

NM_182643.3

p.M1128V

c.3382A>G

1 paper

NM_182643.3

p.M1128K

c.3383T>A

1 paper

NM_182643.3

p.E1130G

c.3389A>G

1 paper

NM_182643.3

p.D1148H

c.3442G>C

1 paper

NM_006094.5

p.D711N

c.2131G>A