Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.G263_F270del0

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.G263_F270del0
c.788_808del21
Surrounding Variants
1 paper
NM_000346.4
p.G263fs
c.787_788fs
2 papers
NM_000346.4
p.G263fs
c.787_788fs
1 paper
NM_000346.4
p.G263_F270del0
c.789_809del21
3 papers
NM_000346.4
p.R264fs
c.790_791fs
1 paper
NM_000346.4
p.G262R
c.784G>A
1 paper
NM_000346.4
p.G262R
c.784G>C
2 papers
NM_000346.4
p.R264K
c.791G>A
1 paper
NM_000346.4
p.E261E
c.783G>A
1 paper
NM_000346.4
p.R264T
c.791G>C
3 papers
NM_000346.4
p.G263insFs
c.788_789insG
1 paper
NM_000346.4
p.E261insFs
c.782_783insGG
1 paper
NM_000346.4
p.E261A
c.782A>C
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