Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.G32insFs

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.G32insFs
c.95_96insT
Surrounding Variants
1 paper
NM_000346.4
p.G32D
c.95G>A
1 paper
NM_000346.4
p.G32S
c.94G>A
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.S33W
c.98C>G
2 papers
NM_000346.4
p.A31V
c.92C>T
1 paper
NM_000346.4
p.E28D
c.84G>C
1 paper
NM_000346.4
p.E28D
c.84G>T
1 paper
NM_000346.4
p.D29_A31del3
c.85_92del9
1 paper
NM_000346.4
p.E28K
c.82G>A
4 papers
NM_000346.4
p.E28*
c.82G>T
1 paper
NM_000346.4
p.S37A
c.109T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."