Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG6
Variant:p.E78*

PLEKHG6

64 papers

Pfam Domains

RhoGEFaa 165–351UCSCRhoGEF domain
RhoGEFaa 165–351UCSCRhoGEF domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G6

HGNC Alias Symbols

FLJ10665; MYOGEF; ARHGEF46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384598.1
p.E78*
c.232G>T
Surrounding Variants
1 paper
NM_001384598.1
p.R67Q
c.200G>A
2 papers
NM_001384598.1
p.R67*
c.199C>T
1 paper
NM_001384598.1
p.P58L
c.173C>T
1 paper
NM_001384598.1
p.H104Q
c.312T>A
1 paper
NM_001384598.1
p.H104Q
c.312T>G
1 paper
NM_001384598.1
p.H111R
c.332A>G
2 papers
NM_001144857.2
p.E10delFs
c.28delG
2 papers
NM_001144857.2
p.E10fs
c.28_29fs
1 paper
NM_001384598.1
p.Y43N
c.127T>A
3 papers
NM_001384598.1
p.A35T
c.103G>A
1 paper
NM_001384598.1
p.T34I
c.101C>T
1 paper
NM_001384598.1
p.L12H
c.35T>A
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