Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7

PLEKHA7

96 papers

Pfam Domains

PHaa 165–282UCSCPH domain
TBCA_PHaa 685–822UCSCPH domain-containing proteins, TBCA domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A7

HGNC Alias Symbol

DKFZp686M22243

Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
4 papers
NM_001329630.2
p.F802fs
c.2404_2405fs
2 papers
NM_001329630.2
p.G23G
c.69C>T
2 papers
NM_001329630.2
p.R53C
c.157C>T
2 papers
NM_001329630.2
p.D191N
c.571G>A
2 papers
NM_001329630.2
p.A248V
c.743C>T
2 papers
NM_001329630.2
p.S288A
c.862T>G
2 papers
NM_001329630.2
p.H311H
c.933C>T
2 papers
NM_001329630.2
p.R346H
c.1037G>A
2 papers
NM_001329630.2
p.V693I
c.2077G>A
2 papers
NM_001329630.2
p.F802delFs
c.2405delA
2 papers
NM_001329630.2
p.P862L
c.2585C>T
1 paper
NM_001329630.2
p.T10fs
c.28_29fs
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."