Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.L146P

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.L146P
c.437T>C
Surrounding Variants
1 paper
NM_000346.4
p.L146L
c.438G>T
1 paper
NM_000346.4
p.N147fs
c.439_440fs
1 paper
NM_000346.4
p.N147T
c.440A>C
1 paper
NM_000346.4
p.N147delFs
c.441delC
1 paper
NM_000346.4
p.L145P
c.434T>C
1 paper
NM_000346.4
p.L145V
c.433C>G
2 papers
NM_000346.4
p.E148Q
c.442G>C
8 papers
NM_000346.4
p.E148*
c.442G>T
1 paper
NM_000346.4
p.E148G
c.443A>G
1 paper
NM_000346.4
p.R144Splc
c.432-2A>C
2 papers
NM_000346.4
p.R144Splc
c.432-2A>G
1 paper
NM_000346.4
p.R144Splc
c.432-3C>A
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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."