Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.S421insFs

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.S421insFs
c.1261_1262insA
Surrounding Variants
2 papers
NM_000346.4
p.Y420*
c.1260C>A
2 papers
NM_000346.4
p.Y420*
c.1260C>G
3 papers
NM_000346.4
p.S421fs
c.1261_1262fs
1 paper
NM_000346.4
p.Y420C
c.1259A>G
1 paper
NM_000346.4
p.S421G
c.1261A>G
1 paper
NM_000346.4
p.S421N
c.1262G>A
1 paper
NM_000346.4
p.S421insFs
c.1263dupC
1 paper
NM_000346.4
p.Y420fs
c.1258_1259fs
1 paper
NM_000346.4
p.A419T
c.1255G>A
1 paper
NM_000346.4
p.F423fs
c.1267_1268fs
1 paper
NM_000346.4
p.I418delFs
c.1252delA
2 papers
NM_000346.4
p.Q417*
c.1249C>T
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