Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG3
Variant:p.E1062K

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.E1062K
c.3184G>A
Surrounding Variants
1 paper
NM_001308147.2
p.G1069S
c.3205G>A
2 papers
NM_001308147.2
p.V1050I
c.3148G>A
1 paper
NM_001308147.2
p.W1047S
c.3140G>C
1 paper
NM_001308147.2
p.E1088Q
c.3262G>C
1 paper
NM_001308147.2
p.G1093V
c.3278G>T
1 paper
NM_001308147.2
p.S1020C
c.3059C>G
1 paper
NM_001308147.2
p.R1014H
c.3041G>A
1 paper
NM_001308147.2
p.G977fs
c.2929_2930fs
1 paper
NM_001308147.2
p.G977delFs
c.2930delG
1 paper
NM_001308147.2
p.R921H
c.2762G>A
1 paper
NM_001308147.2
p.V908M
c.2722G>A
1 paper
NM_001308147.2
p.Q896*
c.2686C>T
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