Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.H169Q

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
9 papers
NM_000346.4
p.H169Q
c.507C>A
Surrounding Variants
10 papers
NM_000346.4
p.H169Q
c.507C>G
4 papers
NM_000346.4
p.H169H
c.507C>T
5 papers
NM_000346.4
p.H169P
c.506A>C
1 paper
NM_000346.4
p.P170T
c.508C>A
1 paper
NM_000346.4
p.P170A
c.508C>G
2 papers
NM_000346.4
p.P170S
c.508C>T
1 paper
NM_000346.4
p.H169fs
c.505_506fs
10 papers
NM_000346.4
p.P170R
c.509C>G
9 papers
NM_000346.4
p.P170L
c.509C>T
2 papers
NM_000346.4
p.H169fs
c.505_506fs
1 paper
NM_000346.4
p.H169insFs
c.505dupC
2 papers
NM_000346.4
p.D168G
c.503A>G
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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."