Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.T25insFs

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.T25insFs
c.74_75insG
Surrounding Variants
1 paper
NM_000346.4
p.P24fs
c.70_71fs
1 paper
NM_000346.4
p.S27insFs
c.79_80insA
1 paper
NM_000346.4
p.S23fs
c.67_68fs
1 paper
NM_000346.4
p.S23fs
c.67_68fs
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.D29_A31del3
c.85_92del9
1 paper
NM_000346.4
p.P22H
c.65C>A
1 paper
NM_000346.4
p.P22L
c.65C>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.A21G
c.62C>G
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