Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA1
Variant:p.D69N

PLEKHA1

68 papers

RefSeq Summary

This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. Th...

Pfam Domains

PHaa 8–112UCSCPH domain
PHaa 192–289UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A1

HGNC Alias Symbol

TAPP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001974.4
p.D69N
c.205G>A
Surrounding Variants
1 paper
NM_001001974.4
p.D69Y
c.205G>T
1 paper
NM_001001974.4
p.S65T
c.193T>A
1 paper
NM_001001974.4
p.L61fs
c.181_182fs
1 paper
NM_001001974.4
p.L61delFs
c.182delT
1 paper
NM_001001974.4
p.Q97*
c.289C>T
1 paper
NM_001001974.4
p.V104V
c.312A>T
5 papers
NM_001001974.4
p.L107*
c.320T>A
1 paper
NM_001001974.4
p.L107F
c.321A>T
1 paper
NM_001001974.4
p.K112T
c.335A>C
1 paper
NM_001001974.4
p.V40V
c.120G>A
1 paper
NM_001001974.4
p.T34I
c.101C>T
1 paper
NM_001001974.4
p.D33G
c.98A>G
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