Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA1
Variant:p.N207T

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.N207T
c.620A>C
Surrounding Variants
1 paper
NM_001001974.4
p.M205V
c.613A>G
1 paper
NM_001001974.4
p.G221S
c.661G>A
2 papers
NM_001001974.4
p.V204G
c.611T>G
1 paper
NM_001001974.4
p.V204L
c.610G>C
1 paper
NM_001001974.4
p.V204L
c.610G>T
2 papers
NM_001001974.4
p.A203G
c.608C>G
3 papers
NM_001001974.4
p.S177N
c.530G>A
1 paper
NM_001001974.4
p.N161fs
c.481_482fs
1 paper
NM_001001974.4
p.Y141*
c.423C>A
1 paper
NM_001001974.4
p.Y141*
c.423C>G
1 paper
NM_001001974.4
p.N124H
c.370A>C
1 paper
NM_001001974.4
p.L227_E228Splc
c.682-5G>T
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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."