Varaico: Literature-Extracted Genetic Variants

Gene:SOX5

SOX5

153 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded p...

Pfam Domains

HMG_boxaa 556–624UCSCHMG (high mobility group) box
HMG_boxaa 556–624UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 5

HGNC Alias Symbols

L-SOX5; MGC35153

Papers
RefSeq ID
Protein change
DNA change
1–12 of 237 variants
6 papers
NM_006940.6
p.R493*
c.1477C>T
6 papers
NM_006940.6
p.R558C
c.1672C>T
6 papers
NM_006940.6
p.R571W
c.1711C>T
5 papers
NM_006940.6
p.R213*
c.637C>T
5 papers
NM_006940.6
p.M560V
c.1678A>G
5 papers
NM_006940.6
p.S587C
c.1759A>T
5 papers
NM_006940.6
p.T632N
c.1895C>A
4 papers
NM_006940.6
p.Q208*
c.622C>T
4 papers
NM_152989.5
p.G341*
c.1021G>T
4 papers
NM_006940.6
p.R471*
c.1411C>T
4 papers
NM_006940.6
p.R558H
c.1673G>A
4 papers
NM_006940.6
p.N561H
c.1681A>C
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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."