Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.L278L

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.L278L
c.834G>T
Surrounding Variants
1 paper
NM_000346.4
p.S279fs
c.835_836fs
1 paper
NM_000346.4
p.L278delFs
c.834delG
1 paper
NM_000346.4
p.L278fs
c.832_833fs
2 papers
NM_000346.4
p.L278L
c.832C>T
1 paper
NM_000346.4
p.E277D
c.831G>C
1 paper
NM_000346.4
p.E277D
c.831G>T
1 paper
NM_000346.4
p.E277fs
c.829_830fs
2 papers
NM_000346.4
p.E277*
c.829G>T
1 paper
NM_000346.4
p.D281Y
c.841G>T
4 papers
NM_000346.4
p.G276C
c.826G>T
1 paper
NM_000346.4
p.V282I
c.844G>A
1 paper
NM_000346.4
p.V282F
c.844G>T
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