Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.W335*

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
6 papers
NM_000346.4
p.W335*
c.1005G>A
Surrounding Variants
1 paper
NM_000346.4
p.W335C
c.1005G>C
1 paper
NM_000346.4
p.W335C
c.1005G>T
5 papers
NM_000346.4
p.W335*
c.1004G>A
1 paper
NM_000346.4
p.V334L
c.1000G>C
1 paper
NM_000346.4
p.V334L
c.1000G>T
1 paper
NM_000346.4
p.H333H
c.999C>T
2 papers
NM_000346.4
p.Q339*
c.1015C>T
1 paper
NM_000346.4
p.G332A
c.995G>C
1 paper
NM_000346.4
p.A331A
c.993G>T
1 paper
NM_000346.4
p.Q340R
c.1019A>G
1 paper
NM_000346.4
p.A331T
c.991G>A
1 paper
NM_000346.4
p.P342delFs
c.1024_1025delCC
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