Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.I321I

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.I321I
c.963C>T
Surrounding Variants
1 paper
NM_000346.4
p.S322G
c.964A>G
1 paper
NM_000346.4
p.S322insFs
c.966dupC
1 paper
NM_000346.4
p.G320S
c.958G>A
1 paper
NM_000346.4
p.G320C
c.958G>T
2 papers
NM_000346.4
p.Y319*
c.957C>A
2 papers
NM_000346.4
p.Y319*
c.957C>G
2 papers
NM_000346.4
p.T324delFs
c.972delC
1 paper
NM_000346.4
p.Y319fs
c.955_956fs
1 paper
NM_000346.4
p.Y319insFs
c.955dupT
1 paper
NM_000346.4
p.A326S
c.976G>T
1 paper
NM_000346.4
p.G317S
c.949G>A
1 paper
NM_000346.4
p.G317insFs
c.949_950ins5
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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."