Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.E66*

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
2 papers
NM_000346.4
p.E66*
c.196G>T
Surrounding Variants
1 paper
NM_000346.4
p.E65E
c.195G>A
2 papers
NM_000346.4
p.S64R
c.192C>A
2 papers
NM_000346.4
p.S64R
c.192C>G
1 paper
NM_000346.4
p.D67E
c.201C>G
2 papers
NM_000346.4
p.S64R
c.190A>C
1 paper
NM_000346.4
p.K68E
c.202A>G
1 paper
NM_000346.4
p.E66_E75del0
c.196_225del30
1 paper
NM_000346.4
p.K68R
c.203A>G
1 paper
NM_000346.4
p.E63G
c.188A>G
1 paper
NM_000346.4
p.E63_F69delFs
c.187_205del19
1 paper
NM_000346.4
p.P70S
c.208C>T
1 paper
NM_000346.4
p.P70R
c.209C>G
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