Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA6
Variant:p.R302C

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.R302C
c.904C>T
Surrounding Variants
1 paper
NM_014935.5
p.R302H
c.905G>A
1 paper
NM_014935.5
p.F285Y
c.854T>A
1 paper
NM_014935.5
p.R279W
c.835C>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
1 paper
NM_014935.5
p.Y274*
c.822C>A
1 paper
NM_014935.5
p.D333H
c.997G>C
1 paper
NM_014935.5
p.E255K
c.763G>A
1 paper
NM_014935.5
p.P232H
c.695C>A
1 paper
NM_014935.5
p.E204fs
c.610_611fs
1 paper
NM_014935.5
p.S197N
c.590G>A
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