Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA1

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
1–12 of 57 variants
9 papers
NM_001001974.4
p.T320A
c.958A>G
5 papers
NM_001001974.4
p.L107*
c.320T>A
3 papers
NM_001001974.4
p.S177N
c.530G>A
2 papers
NM_001001974.4
p.A203G
c.608C>G
2 papers
NM_001001974.4
p.V204G
c.611T>G
1 paper
NM_001001974.4
p.P2insFs
c.6dupT
1 paper
NM_001001974.4
p.L26F
c.76C>T
1 paper
NM_001001974.4
p.R27*
c.79C>T
1 paper
NM_001001974.4
p.D33G
c.98A>G
1 paper
NM_001001974.4
p.T34I
c.101C>T
1 paper
NM_001001974.4
p.V40V
c.120G>A
1 paper
NM_001001974.4
p.L61fs
c.181_182fs
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."