Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.S250F

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.S250F
c.749C>T
Surrounding Variants
2 papers
NM_001329630.2
p.A248V
c.743C>T
1 paper
NM_001329630.2
p.T236R
c.707C>G
1 paper
NM_001329630.2
p.D265N
c.793G>A
1 paper
NM_001329630.2
p.A272S
c.814G>T
1 paper
NM_001329630.2
p.N278Y
c.832A>T
2 papers
NM_001329630.2
p.S288A
c.862T>G
1 paper
NM_001329630.2
p.I216V
c.646A>G
1 paper
NM_001329630.2
p.I209M
c.627C>G
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