Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V291fs

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.V291fs
c.871_872fs
Surrounding Variants
1 paper
NM_000346.4
p.D290D
c.870T>C
1 paper
NM_000346.4
p.D290fs
c.868_869fs
1 paper
NM_000346.4
p.D290delFs
c.868delG
1 paper
NM_000346.4
p.E293K
c.877G>A
1 paper
NM_000346.4
p.F289ins2
c.865_866ins6
1 paper
NM_000346.4
p.F289fs
c.865_866fs
1 paper
NM_000346.4
p.E293G
c.878A>G
1 paper
NM_000346.4
p.F294L
c.880T>C
1 paper
NM_000346.4
p.F294fs
c.880_881fs
1 paper
NM_000346.4
p.E287D
c.861G>C
1 paper
NM_000346.4
p.E287D
c.861G>T
1 paper
NM_000346.4
p.F294L
c.882T>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."