Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.D5H

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.D5H
c.13G>C
Surrounding Variants
1 paper
NM_000346.4
p.D5V
c.14A>T
1 paper
NM_000346.4
p.P6delFs
c.18delC
2 papers
NM_000346.4
p.L4L
c.12G>A
1 paper
NM_000346.4
p.L4L
c.12G>C
1 paper
NM_000346.4
p.D5E
c.15C>A
1 paper
NM_000346.4
p.P6S
c.16C>T
1 paper
NM_000346.4
p.P6H
c.17C>A
1 paper
NM_000346.4
p.L3H
c.8T>A
1 paper
NM_000346.4
p.L3F
c.7C>T
1 paper
NM_000346.4
p.F7I
c.19T>A
1 paper
NM_000346.4
p.N2S
c.5A>G
1 paper
NM_000346.4
p.M1T
c.2T>C
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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."