Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF19
Variant:p.G18D

ARHGEF19

74 papers

RefSeq Summary

Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008].

Pfam Domains

RhoGEFaa 380–558UCSCRhoGEF domain
SH3_2aa 720–774UCSCVariant SH3 domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 19

HGNC Alias Symbols

FLJ33962; WGEF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153213.5
p.G18D
c.53G>A
Surrounding Variants
1 paper
NM_153213.5
p.H21Q
c.63C>G
1 paper
NM_153213.5
p.H21Q
c.63C>A
1 paper
NM_153213.5
p.P6fs
c.16_17fs
1 paper
NM_153213.5
p.P6delFs
c.17delG
1 paper
NM_153213.5
p.L50P
c.149T>C
1 paper
NM_153213.5
p.R95insFs
c.284_285ins4
1 paper
NM_153213.5
p.R126C
c.376C>T
1 paper
NM_153213.5
p.R127W
c.379C>T
1 paper
NM_153213.5
p.W138C
c.414G>T
1 paper
NM_153213.5
p.W138C
c.414G>C
1 paper
NM_153213.5
p.R142L
c.425G>T
1 paper
NM_153213.5
p.F159C
c.476T>G
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