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.T664M

c.1991C>T

Surrounding Variants

1 paper

NM_182643.3

p.L676L

c.2028C>A

1 paper

NM_182643.3

p.F651L

c.1953C>G

1 paper

NM_182643.3

p.F651L

c.1953C>A

1 paper

NM_182643.3

p.K677R

c.2030A>G

1 paper

NM_182643.3

p.F651L

c.1951T>C

2 papers

NM_182643.3

p.D635N

c.1903G>A

1 paper

NM_182643.3

p.P697L

c.2090C>T

1 paper

NM_182643.3

p.E701K

c.2101G>A

1 paper

NM_182643.3

p.M703L

c.2107A>T

1 paper

NM_182643.3

p.M703L

c.2107A>C

1 paper

NM_182643.3

p.S623T

c.1868G>C

1 paper

NM_182643.3

p.S623N

c.1868G>A