Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF19
Variant:p.K523Q

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.K523Q
c.1567A>C
Surrounding Variants
1 paper
NM_153213.5
p.Q517H
c.1551G>T
1 paper
NM_153213.5
p.Q517H
c.1551G>C
1 paper
NM_153213.5
p.P515S
c.1543C>T
1 paper
NM_153213.5
p.R496H
c.1487G>A
1 paper
NM_153213.5
p.R489S
c.1467G>T
1 paper
NM_153213.5
p.R489S
c.1467G>C
1 paper
NM_153213.5
p.K551Q
c.1651A>C
1 paper
NM_153213.5
p.C557Y
c.1670G>A
1 paper
NM_153213.5
p.C557fs
c.1669_1670fs
1 paper
NM_153213.5
p.R478C
c.1432C>T
1 paper
NM_153213.5
p.V561I
c.1681G>A
1 paper
NM_153213.5
p.C557_S563delFs
c.1669_1687del19
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