Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA1
Variant:p.L227_E228Splc

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.L227_E228Splc
c.682-5G>T
Surrounding Variants
1 paper
NM_001001974.4
p.P231L
c.692C>T
1 paper
NM_001001974.4
p.R233R
c.699T>C
1 paper
NM_001001974.4
p.V234L
c.700G>C
1 paper
NM_001001974.4
p.V234L
c.700G>T
1 paper
NM_001001974.4
p.V234V
c.702A>C
1 paper
NM_001001974.4
p.I235L
c.703A>C
1 paper
NM_001001974.4
p.I235L
c.703A>T
1 paper
NM_001001974.4
p.I235K
c.704T>A
1 paper
NM_001001974.4
p.P236L
c.707C>T
1 paper
NM_001001974.4
p.Q248L
c.743A>T
1 paper
NM_001001974.4
p.M253I
c.759G>A
1 paper
NM_001001974.4
p.M253I
c.759G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."