Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA6
Variant:p.T671M

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
1 paper
NM_014935.5
p.T671M
c.2012C>T
Surrounding Variants
1 paper
NM_014935.5
p.D672N
c.2014G>A
2 papers
NM_014935.5
p.R669Q
c.2006G>A
1 paper
NM_014935.5
p.P691S
c.2071C>T
1 paper
NM_014935.5
p.P691L
c.2072C>T
1 paper
NM_014935.5
p.S699N
c.2096G>A
1 paper
NM_014935.5
p.E724_P725Splc
c.2172+268A>C
1 paper
NM_014935.5
p.Q640_N641Splc
c.1920+1G>T
1 paper
NM_014935.5
p.A626V
c.1877C>T
1 paper
NM_014935.5
p.S625C
c.1874C>G
1 paper
NM_014935.5
p.E621A
c.1862A>C
1 paper
NM_014935.5
p.R600R
c.1800C>T
1 paper
NM_014935.5
p.R600H
c.1799G>A
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