Varaico: Literature-Extracted Genetic Variants

Gene:PLEK2
Variant:p.R268H

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.R268H
c.803G>A
Surrounding Variants
1 paper
NM_016445.3
p.R268C
c.802C>T
1 paper
NM_016445.3
p.K234E
c.700A>G
3 papers
NM_016445.3
p.S217C
c.650C>G
1 paper
NM_016445.3
p.E190D
c.570G>T
1 paper
NM_016445.3
p.E190D
c.570G>C
1 paper
NM_016445.3
p.A180P
c.538G>C
1 paper
NM_016445.3
p.G161S
c.481G>A
1 paper
NM_016445.3
p.F159Y
c.476T>A
1 paper
NM_016445.3
p.R297C
c.889C>T
1 paper
NM_016445.3
p.E150*
c.448G>T
1 paper
NM_016445.3
p.R131H
c.392G>A
1 paper
NM_016445.3
p.E344*
c.1030G>T
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