Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.K14_G15Splc

PLEK

740 papers

Pfam Domains

PHaa 5–101UCSCPH domain
DEPaa 139–219UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
PHaa 245–347UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin

HGNC Alias Symbols

P47; PLEK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002664.3
p.K14_G15Splc
c.43-2A>G
Surrounding Variants
1 paper
NM_002664.3
p.G15delFs
c.45delG
1 paper
NM_002664.3
p.G15E
c.44G>A
1 paper
NM_002664.3
p.S16S
c.48C>T
1 paper
NM_002664.3
p.V17A
c.50T>C
1 paper
NM_002664.3
p.T20M
c.59C>T
1 paper
NM_002664.3
p.T20T
c.60G>A
1 paper
NM_002664.3
p.K22insFs
c.65_66insG
1 paper
NM_002664.3
p.K22N
c.66A>C
1 paper
NM_002664.3
p.K22N
c.66A>T
1 paper
NM_002664.3
p.M24delFs
c.72delG
1 paper
NM_002664.3
p.W25_V26delFs
c.75_76delGG
1 paper
NM_002664.3
p.V27E
c.80T>A
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