Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.K14N

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
2 papers
NM_002664.3
p.K14N
c.42G>T
Surrounding Variants
2 papers
NM_002664.3
p.K14N
c.42G>C
3 papers
NM_002664.3
p.K14_G15Splc
c.42+1G>C
1 paper
NM_002664.3
p.K14_G15Splc
c.42+1G>T
2 papers
NM_002664.3
p.K13N
c.39G>C
2 papers
NM_002664.3
p.K13N
c.39G>T
1 paper
NM_002664.3
p.K13E
c.37A>G
2 papers
NM_002664.3
p.V12E
c.35T>A
1 paper
NM_002664.3
p.V12M
c.34G>A
1 paper
NM_002664.3
p.V12L
c.34G>T
2 papers
NM_002664.3
p.L11P
c.32T>C
1 paper
NM_002664.3
p.L11insFs
c.32dupT
1 paper
NM_002664.3
p.I6I
c.18C>A
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