Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.N561H

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
Selected Variant
4 papers
NM_006940.6
p.N561H
c.1681A>C
Surrounding Variants
5 papers
NM_006940.6
p.M560V
c.1678A>G
2 papers
NM_006940.6
p.P559L
c.1676C>T
1 paper
NM_006940.6
p.F563V
c.1687T>G
1 paper
NM_006940.6
p.F563L
c.1687T>C
5 papers
NM_006940.6
p.R558H
c.1673G>A
NM_001261414.3
p.R437H
c.1310G>A
1 paper
NM_006940.6
p.F563L
c.1689C>G
1 paper
NM_006940.6
p.F563L
c.1689C>A
6 papers
NM_006940.6
p.R558C
c.1672C>T
1 paper
NM_006940.6
p.H555Y
c.1663C>T
6 papers
NM_006940.6
p.R571W
c.1711C>T
4 papers
NM_006940.6
p.R571L
c.1712G>T
2 papers
NM_006940.6
p.R571Q
c.1712G>A
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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."