Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P235S

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.P235S
c.703C>T
Surrounding Variants
1 paper
NM_000346.4
p.P235delFs
c.705delG
1 paper
NM_000346.4
p.P234L
c.701C>T
6 papers
NM_000346.4
p.P237insFs
c.710dupC
1 paper
NM_000346.4
p.T236insFs
c.706_707insCC
1 paper
NM_000346.4
p.T236P
c.706A>C
3 papers
NM_000346.4
p.T236A
c.706A>G
1 paper
NM_000346.4
p.P234_T239del6
c.700_716del18
1 paper
NM_000346.4
p.P237L
c.710C>T
1 paper
NM_000346.4
p.P237_P238insFs
c.711_712insC
3 papers
NM_000346.4
p.P238fs
c.712_713fs
1 paper
NM_000346.4
p.Q232*
c.694C>T
1 paper
NM_000346.4
p.P238S
c.712C>T
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