Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA6

PLEKHA6

116 papers

Pfam Domains

PHaa 60–158UCSCPH domain
TBCA_PHaa 524–662UCSCPH domain-containing proteins, TBCA domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A6

HGNC Alias Symbols

PEPP3; KIAA0969

Papers
RefSeq ID
Protein change
DNA change
1–12 of 105 variants
8 papers
NM_014935.5
p.R837K
c.2510G>A
5 papers
NM_014935.5
p.V43I
c.127G>A
3 papers
NM_014935.5
p.Q832*
c.2494C>T
2 papers
NM_014935.5
p.N55D
c.163A>G
2 papers
NM_014935.5
p.V83I
c.247G>A
2 papers
NM_014935.5
p.V184I
c.550G>A
2 papers
NM_014935.5
p.H189L
c.566A>T
2 papers
NM_014935.5
p.V328fs
c.982_983fs
2 papers
NM_014935.5
p.V328delFs
c.982delC
2 papers
NM_014935.5
p.V328fs
c.982_983fs
2 papers
NM_014935.5
p.R669Q
c.2006G>A
2 papers
NM_014935.5
p.A759V
c.2276C>T
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."