Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA1
Variant:p.T320A

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
9 papers
NM_001001974.4
p.T320A
c.958A>G
Surrounding Variants
1 paper
NM_001001974.4
p.A319G
c.956C>G
1 paper
NM_001001974.4
p.A321T
c.961G>A
1 paper
NM_001001974.4
p.T322N
c.965C>A
1 paper
NM_001001974.4
p.A312T
c.934G>A
1 paper
NM_001001974.4
p.S332F
c.995C>T
1 paper
NM_001001974.4
p.G305fs
c.913_914fs
1 paper
NM_001001974.4
p.S335delFs
c.1004delC
1 paper
NM_001001974.4
p.P303S
c.907C>T
1 paper
NM_001001974.4
p.G343G
c.1029A>G
1 paper
NM_001001974.4
p.N382fs
c.1144_1145fs
1 paper
NM_001001974.4
p.D388H
c.1162G>C
1 paper
NM_001001974.4
p.D393H
c.1177G>C
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