Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.E159fs

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.E159fs
c.475_476fs
Surrounding Variants
2 papers
NM_000346.4
p.E159fs
c.475_476fs
1 paper
NM_000346.4
p.E159G
c.476A>G
1 paper
NM_000346.4
p.E159V
c.476A>T
1 paper
NM_000346.4
p.A158_E159insFs
c.474_475dupGG
5 papers
NM_000346.4
p.A158V
c.473C>T
1 paper
NM_000346.4
p.R160ins1
c.478_479insAAT
14 papers
NM_000346.4
p.A158T
c.472G>A
1 paper
NM_000346.4
p.R160P
c.479G>C
1 paper
NM_000346.4
p.E159_R162delFs
c.475_485del11
2 papers
NM_000346.4
p.E157K
c.469G>A
1 paper
NM_000346.4
p.L161L
c.483G>A
1 paper
NM_000346.4
p.R162del1
c.484_485delCGC
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