Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.H311H

PLEKHA7

96 papers

Pfam Domains

PHaa 165–282UCSCPH domain
TBCA_PHaa 685–822UCSCPH domain-containing proteins, TBCA domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A7

HGNC Alias Symbol

DKFZp686M22243

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001329630.2
p.H311H
c.933C>T
Surrounding Variants
1 paper
NM_001329630.2
p.R315W
c.943C>T
1 paper
NM_001329630.2
p.A304P
c.910G>C
1 paper
NM_001329630.2
p.R298W
c.892C>T
1 paper
NM_001329630.2
p.H326Y
c.976C>T
1 paper
NM_001329630.2
p.R327C
c.979C>T
2 papers
NM_001329630.2
p.R346H
c.1037G>A
1 paper
NM_001329630.2
p.R356Q
c.1067G>A
1 paper
NM_001329630.2
p.P364S
c.1090C>T
1 paper
NM_001329630.2
p.R390W
c.1168C>T
1 paper
NM_001329630.2
p.A415G
c.1244C>G
1 paper
NM_001329630.2
p.R428W
c.1282A>T
1 paper
NM_001329630.2
p.V435E
c.1304T>A
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