Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.K166*

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.K166*
c.496A>T
Surrounding Variants
6 papers
NM_000346.4
p.H165Q
c.495C>A
7 papers
NM_000346.4
p.H165Q
c.495C>G
8 papers
NM_000346.4
p.K167del1
c.499_500delAAG
4 papers
NM_000346.4
p.H165P
c.494A>C
1 paper
NM_000346.4
p.H165R
c.494A>G
1 paper
NM_000346.4
p.K167E
c.499A>G
13 papers
NM_000346.4
p.H165Y
c.493C>T
1 paper
NM_000346.4
p.Q164P
c.491A>C
1 paper
NM_000346.4
p.Q164R
c.491A>G
1 paper
NM_000346.4
p.Q164delFs
c.492delG
1 paper
NM_000346.4
p.Q164fs
c.490_491fs
2 papers
NM_000346.4
p.Q164*
c.490C>T
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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."