Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.D41A

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
3 papers
NM_002664.3
p.D41A
c.122A>C
Surrounding Variants
1 paper
NM_002664.3
p.D41E
c.123C>A
1 paper
NM_002664.3
p.D41E
c.123C>G
1 paper
NM_002664.3
p.S40C
c.118A>T
2 papers
NM_002664.3
p.S43N
c.128G>A
1 paper
NM_002664.3
p.K39E
c.115A>G
1 paper
NM_002664.3
p.P44S
c.130C>T
1 paper
NM_002664.3
p.P44Fs
c.131delinsATTFs
1 paper
NM_002664.3
p.P44L
c.131C>T
1 paper
NM_002664.3
p.K45Q
c.133A>C
2 papers
NM_002664.3
p.K45E
c.133A>G
1 paper
NM_002664.3
p.K37*
c.109A>T
1 paper
NM_002664.3
p.G46R
c.136G>A
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