Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.T240P

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
5 papers
NM_000346.4
p.T240P
c.718A>C
Surrounding Variants
1 paper
NM_000346.4
p.T240insFs
c.719dupC
2 papers
NM_000346.4
p.T240fs
c.718_719fs
4 papers
NM_000346.4
p.T240A
c.718A>G
2 papers
NM_000346.4
p.T239fs
c.715_716fs
9 papers
NM_000346.4
p.T239P
c.715A>C
1 paper
NM_000346.4
p.T239A
c.715A>G
1 paper
NM_000346.4
p.T239fs
c.715_716fs
1 paper
NM_000346.4
p.T239_T240delins
c.715_718delinsCCCC
1 paper
NM_000346.4
p.P238_T239insFs
c.714_715insA
1 paper
NM_000346.4
p.P238insFs
c.713_714ins5
1 paper
NM_000346.4
p.P238L
c.713C>T
6 papers
NM_000346.4
p.K242Q
c.724A>C
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