Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.S37A

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.S37A
c.109T>G
Surrounding Variants
1 paper
NM_000346.4
p.S37L
c.110C>T
1 paper
NM_000346.4
p.G38_E44delFs
c.112_131del20
1 paper
NM_000346.4
p.S39C
c.116C>G
2 papers
NM_000346.4
p.G40R
c.118G>C
1 paper
NM_000346.4
p.S33W
c.98C>G
1 paper
NM_000346.4
p.S33P
c.97T>C
1 paper
NM_000346.4
p.S33A
c.97T>G
1 paper
NM_000346.4
p.S41*
c.122C>A
2 papers
NM_000346.4
p.S41L
c.122C>T
1 paper
NM_000346.4
p.G32D
c.95G>A
1 paper
NM_000346.4
p.S41S
c.123G>A
1 paper
NM_000346.4
p.G32insFs
c.95_96insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."