Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V105F

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.V105F
c.313G>T
Surrounding Variants
7 papers
NM_000346.4
p.K106E
c.316A>G
1 paper
NM_000346.4
p.K106K
c.318G>A
2 papers
NM_000346.4
p.R107G
c.319C>G
1 paper
NM_000346.4
p.P103fs
c.307_308fs
1 paper
NM_000346.4
p.R107P
c.320G>C
8 papers
NM_000346.4
p.P108L
c.323C>T
1 paper
NM_000346.4
p.P103_R107del0
c.308_319del12
1 paper
NM_000346.4
p.M109L
c.325A>C
1 paper
NM_000346.4
p.M109L
c.325A>T
1 paper
NM_000346.4
p.N110T
c.329A>C
1 paper
NM_000346.4
p.N110S
c.329A>G
1 paper
NM_000346.4
p.S99R
c.297C>A
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