Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.R478*

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
1 paper
NM_001329630.2
p.R478*
c.1432C>T
Surrounding Variants
1 paper
NM_001329630.2
p.G483fs
c.1447_1448fs
1 paper
NM_001329630.2
p.R489Q
c.1466G>A
1 paper
NM_001329630.2
p.R457L
c.1370G>T
1 paper
NM_001329630.2
p.S508L
c.1523C>T
1 paper
NM_001329630.2
p.R513W
c.1537C>T
1 paper
NM_001329630.2
p.Y524Y
c.1572C>T
1 paper
NM_001329630.2
p.R533W
c.1597C>T
1 paper
NM_001329630.2
p.G544D
c.1631G>A
1 paper
NM_001329630.2
p.G577R
c.1729G>C
1 paper
NM_001329630.2
p.G577R
c.1729G>A
1 paper
NM_001329630.2
p.R585W
c.1753C>T
1 paper
NM_001329630.2
p.A591T
c.1771G>A
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