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.A1230T

c.3688G>A

Surrounding Variants

3 papers

NM_006094.5

p.V790M

c.2368G>A

NM_182643.3

p.V1227M

c.3679G>A

1 paper

NM_182643.3

p.A1214delFs

c.3640_3641delGC

1 paper

NM_182643.3

p.Q1202H

c.3606G>T

1 paper

NM_182643.3

p.Q1202H

c.3606G>C

1 paper

NM_006094.5

p.R761Q

c.2282G>A

1 paper

NM_182643.3

p.E1196K

c.3586G>A

1 paper

NM_006094.5

p.D758E

c.2274C>G

1 paper

NM_006094.5

p.D758E

c.2274C>A

1 paper

NM_182643.3

p.Y1176Splc

c.3527-3C>T

1 paper

NM_006094.5

p.A837G

c.2510C>G

1 paper

NM_182643.3

p.C1280*

c.3840C>A

1 paper

NM_006094.5

p.S730L

c.2189C>T