Varaico: Literature-Extracted Genetic Variants

Gene:SOX9

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
1–12 of 936 variants
26 papers
NM_000346.4
p.Y440*
c.1320C>A
26 papers
NM_000346.4
p.Y440*
c.1320C>G
21 papers
NM_000346.4
p.A76E
c.227C>A
14 papers
NM_000346.4
p.A158T
c.472G>A
13 papers
NM_000346.4
p.H165Y
c.493C>T
12 papers
NM_000346.4
p.R152P
c.455G>C
11 papers
NM_000346.4
p.M113V
c.337A>G
11 papers
NM_000346.4
p.A119V
c.356C>T
10 papers
NM_000346.4
p.F154L
c.460T>C
10 papers
NM_000346.4
p.F154L
c.462C>A
10 papers
NM_000346.4
p.F154L
c.462C>G
10 papers
NM_000346.4
p.H169Q
c.507C>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."