Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.M344T

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.M344T
c.1031T>C
Surrounding Variants
1 paper
NM_002664.3
p.Q343R
c.1028A>G
3 papers
NM_002664.3
p.Q343*
c.1027C>T
1 paper
NM_002664.3
p.A341T
c.1021G>A
7 papers
NM_002664.3
p.R340K
c.1019G>A
2 papers
NM_002664.3
p.P332L
c.995C>T
2 papers
NM_002664.3
p.P332S
c.994C>T
1 paper
NM_002664.3
p.T331N
c.992C>A
2 papers
NM_002664.3
p.Q328*
c.982C>T
1 paper
NM_002664.3
p.L327S
c.980T>C
1 paper
NM_002664.3
p.Y325F
c.974A>T
1 paper
NM_002664.3
p.D321G
c.962A>G
1 paper
NM_002664.3
p.F315_I318del4
c.943_953del12
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