Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.K183K

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.K183K
c.549G>A
Surrounding Variants
1 paper
NM_000346.4
p.K183N
c.549G>C
1 paper
NM_000346.4
p.K183N
c.549G>T
1 paper
NM_000346.4
p.K183R
c.548A>G
1 paper
NM_000346.4
p.V182V
c.546G>A
1 paper
NM_000346.4
p.Q186_A187delFs
c.557_560del4
1 paper
NM_000346.4
p.G185_A187Fs
c.554_559delinsTGTGFs
1 paper
NM_000346.4
p.G185G
c.555G>A
1 paper
NM_000346.4
p.S181*
c.542C>A
2 papers
NM_000346.4
p.Q186*
c.556C>T
1 paper
NM_000346.4
p.Q186fs
c.556_557fs
5 papers
NM_000346.4
p.S181A
c.541T>G
1 paper
NM_000346.4
p.K180_S181insFs
c.540_541insT
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