Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V80G

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
3 papers
NM_000346.4
p.V80G
c.239T>G
Surrounding Variants
1 paper
NM_000346.4
p.V80E
c.239T>A
1 paper
NM_000346.4
p.L81V
c.241C>G
3 papers
NM_000346.4
p.Q79P
c.236A>C
1 paper
NM_000346.4
p.Q79L
c.236A>T
1 paper
NM_000346.4
p.L81P
c.242T>C
1 paper
NM_000346.4
p.L81L
c.243C>A
1 paper
NM_000346.4
p.L81L
c.243C>G
1 paper
NM_000346.4
p.K82R
c.245A>G
1 paper
NM_000346.4
p.S78N
c.233G>A
1 paper
NM_000346.4
p.K82N
c.246A>T
1 paper
NM_000346.4
p.G83R
c.247G>C
1 paper
NM_000346.4
p.V77_S78delFs
c.231_232delCA
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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."