Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.R174_Q175insT

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.R174_Q175insT
c.520_524ins3
Surrounding Variants
1 paper
NM_002664.3
p.R174_Q175insFs
c.522_523insC
1 paper
NM_002664.3
p.Q175_E176ins15
c.523_527ins45
1 paper
NM_002664.3
p.E176G
c.527A>G
1 paper
NM_002664.3
p.G177G
c.531C>T
1 paper
NM_002664.3
p.L178L
c.534C>T
1 paper
NM_002664.3
p.M179I
c.537G>A
2 papers
NM_002664.3
p.M179I
c.537G>C
1 paper
NM_002664.3
p.V166I
c.496G>A
1 paper
NM_002664.3
p.L165L
c.493C>T
1 paper
NM_002664.3
p.S183L
c.548C>T
1 paper
NM_002664.3
p.L184L
c.550C>T
1 paper
NM_002664.3
p.L184_P192delFs
c.552_574del23
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."