Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.L185delFs

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.L185delFs
c.555delC
Surrounding Variants
3 papers
NM_002664.3
p.L184_L185insFs
c.552_553ins4
1 paper
NM_002664.3
p.N186S
c.557A>G
1 paper
NM_002664.3
p.L184_P192delFs
c.552_574del23
1 paper
NM_002664.3
p.L184L
c.550C>T
1 paper
NM_002664.3
p.S183L
c.548C>T
1 paper
NM_002664.3
p.G188R
c.562G>A
1 paper
NM_002664.3
p.G188R
c.562G>C
1 paper
NM_002664.3
p.G188W
c.562G>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.P192ins2
c.574_575ins6
1 paper
NM_002664.3
p.L178L
c.534C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."