Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.A110S

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.A110S
c.328G>T
Surrounding Variants
1 paper
NM_002664.3
p.K108N
c.324A>C
2 papers
NM_002664.3
p.K108N
c.324A>T
1 paper
NM_002664.3
p.K108_F109insG
c.322_326ins3
1 paper
NM_002664.3
p.K108Q
c.322A>C
2 papers
NM_002664.3
p.K108E
c.322A>G
2 papers
NM_002664.3
p.K112E
c.334A>G
1 paper
NM_002664.3
p.G106G
c.318C>A
1 paper
NM_002664.3
p.S113S
c.339T>A
1 paper
NM_002664.3
p.G106R
c.316G>C
1 paper
NM_002664.3
p.G105G
c.315A>T
1 paper
NM_002664.3
p.T114I
c.341C>T
1 paper
NM_002664.3
p.G105_G106delFs
c.315_318del4
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