Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA6
Variant:p.Q832*

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
3 papers
NM_014935.5
p.Q832*
c.2494C>T
Surrounding Variants
8 papers
NM_014935.5
p.R837K
c.2510G>A
1 paper
NM_014935.5
p.S820C
c.2458A>T
1 paper
NM_014935.5
p.G815fs
c.2443_2444fs
1 paper
NM_014935.5
p.R864C
c.2590C>T
1 paper
NM_014935.5
p.S867N
c.2600G>A
1 paper
NM_014935.5
p.D872N
c.2614G>A
1 paper
NM_014935.5
p.I873I
c.2619C>A
1 paper
NM_014935.5
p.A889T
c.2665G>A
1 paper
NM_014935.5
p.I914N
c.2741T>A
1 paper
NM_014935.5
p.Q948E
c.2842C>G
1 paper
NM_014935.5
p.K949Q
c.2845A>C
2 papers
NM_014935.5
p.S961F
c.2882C>T
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