Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG3

PLEKHG3

45 papers

Pfam Domains

RhoGEFaa 97–270UCSCRhoGEF domain
SOS1_NGEF_PHaa 297–392UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G3

HGNC Previous Symbol

KIAA0599

Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
2 papers
NM_001308147.2
p.V1050I
c.3148G>A
1 paper
NM_001308147.2
p.R15P
c.44G>C
1 paper
NM_001308147.2
p.P16L
c.47C>T
1 paper
NM_001308147.2
p.S26L
c.77C>T
1 paper
NM_001308147.2
p.R54S
c.162A>C
1 paper
NM_001308147.2
p.R54S
c.162A>T
1 paper
NM_001308147.2
p.L94M
c.280C>A
1 paper
NM_001308147.2
p.S161C
c.481A>T
1 paper
NM_001308147.2
p.N189Splc
c.566+20G>A
1 paper
NM_001308147.2
p.T195M
c.584C>T
1 paper
NM_001308147.2
p.Q202L
c.605A>T
1 paper
NM_001308147.2
p.G251G
c.753C>A
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