Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q208fs

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.Q208fs
c.622_623fs
Surrounding Variants
4 papers
NM_000346.4
p.Q208*
c.622C>T
1 paper
NM_000346.4
p.A209T
c.625G>A
1 paper
NM_000346.4
p.A209V
c.626C>T
1 paper
NM_000346.4
p.D210N
c.628G>A
1 paper
NM_000346.4
p.D210insFs
c.628_629insA
1 paper
NM_000346.4
p.D210_H213delFs
c.630_637del8
1 paper
NM_000346.4
p.K205R
c.614A>G
2 papers
NM_000346.4
p.S211A
c.631T>G
1 paper
NM_000346.4
p.F204delins
c.611_612delinsAA
1 paper
NM_000346.4
p.F204V
c.610T>G
2 papers
NM_000346.4
p.F204fs
c.610_611fs
1 paper
NM_000346.4
p.P212R
c.635C>G
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