Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.H454_A455del1

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.H454_A455del1
c.1362_1364delCGC
Surrounding Variants
1 paper
NM_000346.4
p.S453I
c.1358G>T
1 paper
NM_000346.4
p.S453fs
c.1357_1358fs
1 paper
NM_000346.4
p.H454_A455delFs
c.1360_1364del5
1 paper
NM_000346.4
p.A456P
c.1366G>C
1 paper
NM_000346.4
p.A456V
c.1367C>T
2 papers
NM_000346.4
p.G457D
c.1370G>A
2 papers
NM_000346.4
p.Q458delFs
c.1372delC
1 paper
NM_000346.4
p.Q458*
c.1372C>T
1 paper
NM_000346.4
p.Q458fs
c.1372_1373fs
1 paper
NM_000346.4
p.S449R
c.1347C>A
1 paper
NM_000346.4
p.G461S
c.1381G>A
1 paper
NM_000346.4
p.L462I
c.1384C>A
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