Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.I96I

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.I96I
c.288C>T
Surrounding Variants
1 paper
NM_002664.3
p.K97E
c.289A>G
1 paper
NM_002664.3
p.K97T
c.290A>C
2 papers
NM_002664.3
p.K97K
c.291G>A
6 papers
NM_002664.3
p.K97N
c.291G>C
6 papers
NM_002664.3
p.K97N
c.291G>T
1 paper
NM_002664.3
p.K98K
c.294G>A
1 paper
NM_002664.3
p.R94W
c.280C>T
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.C102S
c.304T>A
1 paper
NM_002664.3
p.C102S
c.305G>C
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