Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.G302C

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.G302C
c.904G>T
Surrounding Variants
1 paper
NM_000346.4
p.G302R
c.904G>C
1 paper
NM_000346.4
p.P300L
c.899C>T
2 papers
NM_000346.4
p.V306insFs
c.916dupG
2 papers
NM_000346.4
p.V306delFs
c.916delG
1 paper
NM_000346.4
p.P299P
c.897G>A
1 paper
NM_000346.4
p.G305A
c.914G>C
1 paper
NM_000346.4
p.G305V
c.914G>T
4 papers
NM_000346.4
p.V306fs
c.916_917fs
3 papers
NM_000346.4
p.V306fs
c.916_917fs
1 paper
NM_000346.4
p.Y297*
c.891C>A
2 papers
NM_000346.4
p.Y297*
c.891C>G
1 paper
NM_000346.4
p.Y297insFs
c.889_890insC
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