Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG3
Variant:p.Q202L

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
Selected Variant
1 paper
NM_001308147.2
p.Q202L
c.605A>T
Surrounding Variants
1 paper
NM_001308147.2
p.T195M
c.584C>T
1 paper
NM_001308147.2
p.N189Splc
c.566+20G>A
1 paper
NM_001308147.2
p.G251G
c.753C>A
1 paper
NM_001308147.2
p.L282L
c.846C>T
1 paper
NM_001308147.2
p.S161C
c.481A>T
1 paper
NM_001308147.2
p.L327fs
c.979_980fs
1 paper
NM_001308147.2
p.E352G
c.1055A>G
1 paper
NM_001308147.2
p.R383Q
c.1148G>A
1 paper
NM_001308147.2
p.P402P
c.1206C>G
1 paper
NM_001308147.2
p.D413N
c.1237G>A
1 paper
NM_001308147.2
p.Y416ins5
c.1246_1247ins15
1 paper
NM_001308147.2
p.Y420*
c.1260C>A
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