Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA6
Variant:p.N55D

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
Selected Variant
2 papers
NM_014935.5
p.N55D
c.163A>G
Surrounding Variants
5 papers
NM_014935.5
p.V43I
c.127G>A
1 paper
NM_014935.5
p.R40S
c.118C>A
1 paper
NM_014935.5
p.Q69_A70Splc
c.208-4G>A
1 paper
NM_014935.5
p.Q69_A70Splc
c.208-2A>G
1 paper
NM_014935.5
p.K79*
c.235A>T
2 papers
NM_014935.5
p.V83I
c.247G>A
1 paper
NM_014935.5
p.K93Fs
c.278delinsCTGCATTTCAGFs
1 paper
NM_014935.5
p.L106fs
c.316_317fs
1 paper
NM_014935.5
p.R110W
c.328C>T
1 paper
NM_014935.5
p.V114L
c.340G>T
1 paper
NM_014935.5
p.V114L
c.340G>C
1 paper
NM_014935.5
p.V114M
c.340G>A
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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."