Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.L243L

WWOX

365 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor g...

Pfam Domains

WWaa 18–47UCSCWW domain
WWaa 59–88UCSCWW domain
adh_shortaa 125–269UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

WW domain containing oxidoreductase

HGNC Alias Symbols

FOR; WOX1; SDR41C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016373.4
p.L243L
c.729C>T
Surrounding Variants
1 paper
NM_016373.4
p.L243insFs
c.728dupT
1 paper
NM_016373.4
p.L243F
c.727C>T
1 paper
NM_016373.4
p.L247M
c.739T>A
12 papers
NM_016373.4
p.L239R
c.716T>G
1 paper
NM_016373.4
p.L239V
c.715C>G
1 paper
NM_016373.4
p.C248*
c.744C>A
3 papers
NM_016373.4
p.Y238C
c.713A>G
1 paper
NM_016373.4
p.Y238F
c.713A>T
2 papers
NM_016373.4
p.R249C
c.745C>T
1 paper
NM_016373.4
p.R249H
c.746G>A
4 papers
NM_016373.4
p.S250*
c.749C>A
4 papers
NM_016373.4
p.S250*
c.749C>G
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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."