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.P727L

c.2180C>T

Surrounding Variants

2 papers

NM_182643.3

p.R730Q

c.2189G>A

1 paper

NM_182643.3

p.N722S

c.2165A>G

1 paper

NM_182643.3

p.T738M

c.2213C>T

1 paper

NM_006094.5

p.T301K

c.902C>A

6 papers

NM_182643.3

p.S741T

c.2222G>C

1 paper

NM_006094.5

p.S308I

c.923G>T

1 paper

NM_182643.3

p.S745R

c.2235C>A

1 paper

NM_182643.3

p.S745del1

c.2233_2235delGCT

1 paper

NM_182643.3

p.S747S

c.2241G>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.E701K

c.2101G>A