Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG1

PLEKHG1

89 papers

Pfam Domains

RhoGEFaa 117–291UCSCRhoGEF domain
SOS1_NGEF_PHaa 318–414UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G1

HGNC Alias Symbols

KIAA1209; ARHGEF41

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
3 papers
NM_001029884.3
p.L245F
c.733C>T
2 papers
NM_001029884.3
p.T101M
c.302C>T
2 papers
NM_001029884.3
p.Q304L
c.911A>T
2 papers
NM_001029884.3
p.D579D
c.1737T>C
2 papers
NM_001029884.3
p.C1145R
c.3433T>C
2 papers
NM_001029884.3
p.V1147M
c.3439G>A
2 papers
NM_001029884.3
p.G1233C
c.3697G>T
2 papers
NM_001029884.3
p.R1328C
c.3982C>T
1 paper
NM_001029884.3
p.P9insFs
c.25_26insC
1 paper
NM_001029884.3
p.T15R
c.44C>G
1 paper
NM_001029884.3
p.Q45K
c.133C>A
1 paper
NM_001029884.3
p.E66K
c.196G>A
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