Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.W115delFs

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.W115delFs
c.343delT
Surrounding Variants
3 papers
NM_000346.4
p.W115R
c.343T>A
3 papers
NM_000346.4
p.W115R
c.343T>C
1 paper
NM_000346.4
p.V114A
c.341T>C
2 papers
NM_000346.4
p.V114M
c.340G>A
2 papers
NM_000346.4
p.W115*
c.344G>A
3 papers
NM_000346.4
p.V114L
c.340G>C
2 papers
NM_000346.4
p.W115S
c.344G>C
3 papers
NM_000346.4
p.V114L
c.340G>T
2 papers
NM_000346.4
p.W115*
c.345G>A
2 papers
NM_000346.4
p.A116T
c.346G>A
5 papers
NM_000346.4
p.M113T
c.338T>C
2 papers
NM_000346.4
p.M113L
c.337A>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."