Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.A119V

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
11 papers
NM_000346.4
p.A119V
c.356C>T
Surrounding Variants
3 papers
NM_000346.4
p.A119E
c.356C>A
1 paper
NM_000346.4
p.R120G
c.358C>G
4 papers
NM_000346.4
p.R120C
c.358C>T
1 paper
NM_000346.4
p.A118V
c.353C>T
1 paper
NM_000346.4
p.R120H
c.359G>A
1 paper
NM_000346.4
p.R120L
c.359G>T
1 paper
NM_000346.4
p.A118T
c.352G>A
1 paper
NM_000346.4
p.A118P
c.352G>C
1 paper
NM_000346.4
p.A118S
c.352G>T
1 paper
NM_000346.4
p.R121G
c.361A>G
1 paper
NM_000346.4
p.A118_D125del0
c.353_373del21
8 papers
NM_000346.4
p.Q117*
c.349C>T
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