Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q417*

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
2 papers
NM_000346.4
p.Q417*
c.1249C>T
Surrounding Variants
1 paper
NM_000346.4
p.I418delFs
c.1252delA
1 paper
NM_000346.4
p.P415S
c.1243C>T
1 paper
NM_000346.4
p.P415fs
c.1243_1244fs
1 paper
NM_000346.4
p.A419T
c.1255G>A
1 paper
NM_000346.4
p.S414_P415insFs
c.1242_1243insT
1 paper
NM_000346.4
p.S414*
c.1241C>A
1 paper
NM_000346.4
p.Y420fs
c.1258_1259fs
1 paper
NM_000346.4
p.Y420C
c.1259A>G
1 paper
NM_000346.4
p.H413_S414Fs
c.1238_1241delinsTGAFs
2 papers
NM_000346.4
p.Y420*
c.1260C>A
1 paper
NM_000346.4
p.S421insFs
c.1261_1262insA
2 papers
NM_000346.4
p.Y420*
c.1260C>G
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