Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.A124T

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
2 papers
NM_000346.4
p.A124T
c.370G>A
Surrounding Variants
3 papers
NM_000346.4
p.A124P
c.370G>C
1 paper
NM_000346.4
p.A124V
c.371C>T
1 paper
NM_000346.4
p.D125A
c.374A>C
1 paper
NM_000346.4
p.Q126*
c.376C>T
1 paper
NM_000346.4
p.R121G
c.361A>G
1 paper
NM_000346.4
p.Y127D
c.379T>G
2 papers
NM_000346.4
p.Y127C
c.380A>G
1 paper
NM_000346.4
p.R120H
c.359G>A
1 paper
NM_000346.4
p.R120L
c.359G>T
1 paper
NM_000346.4
p.R120G
c.358C>G
4 papers
NM_000346.4
p.R120C
c.358C>T
1 paper
NM_000346.4
p.P128L
c.383C>T
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."