Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.C59ins5

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.C59ins5
c.175_176ins15
Surrounding Variants
1 paper
NM_002664.3
p.P58_C59insFs
c.174_175insT
1 paper
NM_002664.3
p.P58L
c.173C>T
1 paper
NM_002664.3
p.P58A
c.172C>G
1 paper
NM_002664.3
p.C59F
c.176G>T
1 paper
NM_002664.3
p.C59W
c.177T>G
1 paper
NM_002664.3
p.Q60K
c.178C>A
1 paper
NM_002664.3
p.S57T
c.170G>C
1 paper
NM_002664.3
p.D61N
c.181G>A
1 paper
NM_002664.3
p.D61Y
c.181G>T
2 papers
NM_002664.3
p.D61G
c.182A>G
1 paper
NM_002664.3
p.F62I
c.184T>A
1 paper
NM_002664.3
p.F62L
c.184T>C
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