Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.K167E

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.K167E
c.499A>G
Surrounding Variants
1 paper
NM_000346.4
p.K166*
c.496A>T
1 paper
NM_000346.4
p.D168insFs
c.503dupA
1 paper
NM_000346.4
p.D168Y
c.502G>T
1 paper
NM_000346.4
p.D168fs
c.502_503fs
1 paper
NM_000346.4
p.H169insFs
c.505dupC
2 papers
NM_000346.4
p.D168G
c.503A>G
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.H169fs
c.505_506fs
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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."