Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.L462L

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.L462L
c.1386C>A
Surrounding Variants
1 paper
NM_000346.4
p.L462I
c.1384C>A
1 paper
NM_000346.4
p.S464fs
c.1390_1391fs
1 paper
NM_000346.4
p.S464delFs
c.1392delC
1 paper
NM_000346.4
p.G461S
c.1381G>A
1 paper
NM_000346.4
p.S464S
c.1392C>T
1 paper
NM_000346.4
p.T465fs
c.1393_1394fs
1 paper
NM_000346.4
p.T467fs
c.1399_1400fs
1 paper
NM_000346.4
p.T467fs
c.1399_1400fs
1 paper
NM_000346.4
p.T467insFs
c.1400_1401ins4
1 paper
NM_000346.4
p.Q458*
c.1372C>T
1 paper
NM_000346.4
p.Q458fs
c.1372_1373fs
2 papers
NM_000346.4
p.G457D
c.1370G>A
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