Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.L120L

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.L120L
c.360G>A
Surrounding Variants
1 paper
NM_002664.3
p.P121S
c.361C>T
1 paper
NM_002664.3
p.P121L
c.362C>T
1 paper
NM_002664.3
p.R119P
c.356G>C
1 paper
NM_002664.3
p.I118Fs
c.354delinsAAFs
1 paper
NM_002664.3
p.I118delins
c.353_354delinsAA
1 paper
NM_002664.3
p.R116S
c.348G>C
1 paper
NM_002664.3
p.D125N
c.373G>A
1 paper
NM_002664.3
p.R116insFs
c.347_348insA
1 paper
NM_002664.3
p.R116G
c.346A>G
1 paper
NM_002664.3
p.R115K
c.344G>A
1 paper
NM_002664.3
p.R115T
c.344G>C
1 paper
NM_002664.3
p.L126L
c.376T>C
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