Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.H310delFs

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.H310delFs
c.928_929delCA
Surrounding Variants
1 paper
NM_000346.4
p.H310fs
c.928_929fs
1 paper
NM_000346.4
p.H310P
c.929A>C
1 paper
NM_000346.4
p.H310H
c.930C>T
1 paper
NM_000346.4
p.G311C
c.931G>T
1 paper
NM_000346.4
p.A308S
c.922G>T
2 papers
NM_000346.4
p.Q312fs
c.934_935fs
3 papers
NM_000346.4
p.P307R
c.920C>G
3 papers
NM_000346.4
p.P307L
c.920C>T
2 papers
NM_000346.4
p.Q312*
c.934C>T
4 papers
NM_000346.4
p.V306fs
c.916_917fs
3 papers
NM_000346.4
p.V306fs
c.916_917fs
1 paper
NM_000346.4
p.T314fs
c.940_941fs
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