Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q393fs

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.Q393fs
c.1177_1178fs
Surrounding Variants
1 paper
NM_000346.4
p.Q393K
c.1177C>A
3 papers
NM_000346.4
p.Q393*
c.1177C>T
1 paper
NM_000346.4
p.Q393fs
c.1177_1178fs
1 paper
NM_000346.4
p.S392F
c.1175C>T
4 papers
NM_000346.4
p.R394G
c.1180C>G
7 papers
NM_000346.4
p.R394*
c.1180C>T
1 paper
NM_000346.4
p.S392fs
c.1174_1175fs
2 papers
NM_000346.4
p.Q393delFs
c.1177delC
1 paper
NM_000346.4
p.R394Q
c.1181G>A
1 paper
NM_000346.4
p.R394L
c.1181G>T
3 papers
NM_000346.4
p.T395_H396insFs
c.1185_1186dupGC
2 papers
NM_000346.4
p.Q391*
c.1171C>T
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