Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R121G

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.R121G
c.361A>G
Surrounding Variants
1 paper
NM_000346.4
p.R120H
c.359G>A
1 paper
NM_000346.4
p.R120L
c.359G>T
1 paper
NM_000346.4
p.R120G
c.358C>G
4 papers
NM_000346.4
p.R120C
c.358C>T
3 papers
NM_000346.4
p.A119E
c.356C>A
11 papers
NM_000346.4
p.A119V
c.356C>T
1 paper
NM_000346.4
p.A118V
c.353C>T
2 papers
NM_000346.4
p.A124T
c.370G>A
1 paper
NM_000346.4
p.A118T
c.352G>A
3 papers
NM_000346.4
p.A124P
c.370G>C
1 paper
NM_000346.4
p.A118P
c.352G>C
1 paper
NM_000346.4
p.A118S
c.352G>T
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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."