Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.F219_P220Splc

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.F219_P220Splc
c.657+1G>T
Surrounding Variants
2 papers
NM_002664.3
p.F219_P220Splc
c.657+1G>A
1 paper
NM_002664.3
p.F219_P220Splc
c.657+5G>A
1 paper
NM_002664.3
p.Y218S
c.653A>C
1 paper
NM_002664.3
p.F216S
c.647T>C
6 papers
NM_002664.3
p.A215V
c.644C>T
1 paper
NM_002664.3
p.D211V
c.632A>T
3 papers
NM_002664.3
p.E206D
c.618A>T
1 paper
NM_002664.3
p.A205V
c.614C>T
3 papers
NM_002664.3
p.G203R
c.607G>A
3 papers
NM_002664.3
p.G203R
c.607G>C
1 paper
NM_002664.3
p.V201A
c.602T>C
1 paper
NM_002664.3
p.V201delFs
c.601delG
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