Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.R89*

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.R89*
c.265A>T
Surrounding Variants
1 paper
NM_002664.3
p.E88K
c.262G>A
1 paper
NM_002664.3
p.D90N
c.268G>A
1 paper
NM_002664.3
p.D90V
c.269A>T
2 papers
NM_002664.3
p.E87Q
c.259G>C
1 paper
NM_002664.3
p.L86M
c.256C>A
3 papers
NM_002664.3
p.W92R
c.274T>A
1 paper
NM_002664.3
p.W92R
c.274T>C
1 paper
NM_002664.3
p.W92_V93insAA
c.274_278ins6
1 paper
NM_002664.3
p.F85insFs
c.254_255insT
1 paper
NM_002664.3
p.R94W
c.280C>T
1 paper
NM_002664.3
p.A83T
c.247G>A
1 paper
NM_002664.3
p.F81_Q82insFs
c.243_244insT
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