Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Y174C

SOX9

751 papers

RefSeq Summary

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic ...

Pfam Domains

Sox_Naa 22–94UCSCSox developmental protein N terminal
HMG_boxaa 105–173UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 9

HGNC Previous Symbols

CMD1; CMPD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000346.4
p.Y174C
c.521A>G
Surrounding Variants
1 paper
NM_000346.4
p.Y174S
c.521A>C
1 paper
NM_000346.4
p.Y174fs
c.520_521fs
1 paper
NM_000346.4
p.Q175E
c.523C>G
2 papers
NM_000346.4
p.Q175*
c.523C>T
2 papers
NM_000346.4
p.Q175P
c.524A>C
1 paper
NM_000346.4
p.K173Q
c.517A>C
10 papers
NM_000346.4
p.K173E
c.517A>G
2 papers
NM_000346.4
p.P176T
c.526C>A
1 paper
NM_000346.4
p.P176S
c.526C>T
1 paper
NM_000346.4
p.K173delFs
c.518delA
9 papers
NM_000346.4
p.P176L
c.527C>T
1 paper
NM_000346.4
p.Y172H
c.514T>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."