Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.T87fs

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.T87fs
c.259_260fs
Surrounding Variants
1 paper
NM_000346.4
p.T87A
c.259A>G
1 paper
NM_000346.4
p.T87_L88insFs
c.261_262insG
1 paper
NM_000346.4
p.T87M
c.260C>T
2 papers
NM_000346.4
p.W86*
c.258G>A
3 papers
NM_000346.4
p.W86*
c.257G>A
2 papers
NM_000346.4
p.L88insFs
c.262_263insG
2 papers
NM_000346.4
p.D85H
c.253G>C
2 papers
NM_000346.4
p.V89L
c.265G>C
2 papers
NM_000346.4
p.V89L
c.265G>T
1 paper
NM_000346.4
p.D85delFs
c.253_254delGA
1 paper
NM_000346.4
p.Y84F
c.251A>T
1 paper
NM_000346.4
p.Y84D
c.250T>G
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