Varaico: Literature-Extracted Genetic Variants

Gene:PLEK2
Variant:p.R24Q

PLEK2

24 papers

RefSeq Summary

The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to indu...

Pfam Domains

PHaa 5–104UCSCPH domain
DEPaa 142–223UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
PHaa 248–353UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016445.3
p.R24Q
c.71G>A
Surrounding Variants
1 paper
NM_016445.3
p.H19H
c.57C>T
1 paper
NM_016445.3
p.H16Y
c.46C>T
1 paper
NM_016445.3
p.L33R
c.98T>G
1 paper
NM_016445.3
p.E39Q
c.115G>C
1 paper
NM_016445.3
p.K48R
c.143A>G
1 paper
NM_016445.3
p.L52L
c.156C>T
1 paper
NM_016445.3
p.T80M
c.239C>T
1 paper
NM_016445.3
p.A102delFs
c.304delC
1 paper
NM_016445.3
p.A102fs
c.304_305fs
1 paper
NM_016445.3
p.R131H
c.392G>A
1 paper
NM_016445.3
p.E150*
c.448G>T
1 paper
NM_016445.3
p.F159Y
c.476T>A
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