Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.E50K

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.E50K
c.148G>A
Surrounding Variants
1 paper
NM_000346.4
p.E50*
c.148G>T
1 paper
NM_000346.4
p.E50V
c.149A>T
2 papers
NM_000346.4
p.Q49L
c.146A>T
2 papers
NM_000346.4
p.E50D
c.150G>C
2 papers
NM_000346.4
p.E50D
c.150G>T
1 paper
NM_000346.4
p.N51S
c.152A>G
1 paper
NM_000346.4
p.T52S
c.154A>T
1 paper
NM_000346.4
p.P48T
c.142C>A
1 paper
NM_000346.4
p.R47Q
c.140G>A
1 paper
NM_000346.4
p.T52T
c.156G>A
1 paper
NM_000346.4
p.F53fs
c.157_158fs
1 paper
NM_000346.4
p.R47insFs
c.140_141ins4
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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."