Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.L259L

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.L259L
c.775T>C
Surrounding Variants
2 papers
NM_000346.4
p.L259*
c.776T>A
1 paper
NM_000346.4
p.R257_P258insFs
c.771_772ins5
1 paper
NM_000346.4
p.E261_P267delFs
c.781_800del20
1 paper
NM_000346.4
p.R257H
c.770G>A
1 paper
NM_000346.4
p.R257L
c.770G>T
1 paper
NM_000346.4
p.R257fs
c.769_770fs
4 papers
NM_000346.4
p.R257C
c.769C>T
4 papers
NM_000346.4
p.E261fs
c.781_782fs
1 paper
NM_000346.4
p.E261_G262insG
c.781_785ins3
1 paper
NM_000346.4
p.E261*
c.781G>T
1 paper
NM_000346.4
p.E261fs
c.781_782fs
3 papers
NM_000346.4
p.G263insFs
c.788_789insG
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