Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.E34K

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
1 paper
NM_002664.3
p.E34K
c.100G>A
Surrounding Variants
1 paper
NM_002664.3
p.E34_M47delFs
c.102_139del38
1 paper
NM_002664.3
p.E34V
c.101A>T
2 papers
NM_002664.3
p.I33N
c.98T>A
1 paper
NM_002664.3
p.I33S
c.98T>G
1 paper
NM_002664.3
p.I33V
c.97A>G
1 paper
NM_002664.3
p.F35L
c.103T>C
1 paper
NM_002664.3
p.G32G
c.96A>G
1 paper
NM_002664.3
p.F35Y
c.104T>A
2 papers
NM_002664.3
p.F35L
c.105C>A
1 paper
NM_002664.3
p.F35L
c.105C>G
1 paper
NM_002664.3
p.G32E
c.95G>A
1 paper
NM_002664.3
p.Y36delFs
c.108delT
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