Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Y440*

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
26 papers
NM_000346.4
p.Y440*
c.1320C>A
Surrounding Variants
2 papers
NM_000346.4
p.Y440_D441insFs
c.1320_1321ins5
26 papers
NM_000346.4
p.Y440*
c.1320C>G
2 papers
NM_000346.4
p.D441N
c.1321G>A
1 paper
NM_000346.4
p.D441Y
c.1321G>T
1 paper
NM_000346.4
p.D441fs
c.1321_1322fs
1 paper
NM_000346.4
p.D441G
c.1322A>G
1 paper
NM_000346.4
p.Y440insFs
c.1319dupA
2 papers
NM_000346.4
p.Q439fs
c.1315_1316fs
2 papers
NM_000346.4
p.D444_H445delFs
c.1330_1333del4
3 papers
NM_000346.4
p.S438*
c.1313C>A
3 papers
NM_000346.4
p.S438*
c.1313C>G
1 paper
NM_000346.4
p.S438insFs
c.1313dupC
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