Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.F112L

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
7 papers
NM_000346.4
p.F112L
c.334T>C
Surrounding Variants
4 papers
NM_000346.4
p.F112S
c.335T>C
7 papers
NM_000346.4
p.F112L
c.336C>A
7 papers
NM_000346.4
p.F112L
c.336C>G
2 papers
NM_000346.4
p.M113L
c.337A>C
11 papers
NM_000346.4
p.M113V
c.337A>G
3 papers
NM_000346.4
p.M113L
c.337A>T
1 paper
NM_000346.4
p.A111T
c.331G>A
5 papers
NM_000346.4
p.M113T
c.338T>C
1 paper
NM_000346.4
p.N110T
c.329A>C
1 paper
NM_000346.4
p.N110S
c.329A>G
2 papers
NM_000346.4
p.V114M
c.340G>A
3 papers
NM_000346.4
p.V114L
c.340G>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."