Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.F294fs

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.F294fs
c.880_881fs
Surrounding Variants
1 paper
NM_000346.4
p.F294L
c.880T>C
1 paper
NM_000346.4
p.E293G
c.878A>G
1 paper
NM_000346.4
p.F294L
c.882T>A
1 paper
NM_000346.4
p.F294L
c.882T>G
2 papers
NM_000346.4
p.D295N
c.883G>A
1 paper
NM_000346.4
p.E293K
c.877G>A
1 paper
NM_000346.4
p.D295H
c.883G>C
1 paper
NM_000346.4
p.D295Y
c.883G>T
1 paper
NM_000346.4
p.Q296fs
c.886_887fs
1 paper
NM_000346.4
p.Q296_Y297insFs
c.888_889insC
1 paper
NM_000346.4
p.Y297insFs
c.889dupT
1 paper
NM_000346.4
p.V291fs
c.871_872fs
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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."