Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.T138K

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.T138K
c.413C>A
Surrounding Variants
1 paper
NM_000346.4
p.K137R
c.410A>G
2 papers
NM_000346.4
p.K137delFs
c.409_410delAA
1 paper
NM_000346.4
p.G140_K141ins4
c.418_422ins12
1 paper
NM_000346.4
p.G140D
c.419G>A
1 paper
NM_000346.4
p.K141E
c.421A>G
1 paper
NM_000346.4
p.L135F
c.403C>T
1 paper
NM_000346.4
p.K141N
c.423G>C
1 paper
NM_000346.4
p.K141N
c.423G>T
4 papers
NM_000346.4
p.L142P
c.425T>C
1 paper
NM_000346.4
p.W143insFs
c.427dupT
2 papers
NM_000346.4
p.E134*
c.400G>T
7 papers
NM_000346.4
p.W143R
c.427T>A
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."