Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.F154delFs

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.F154delFs
c.462delC
Surrounding Variants
1 paper
NM_000346.4
p.F154Y
c.461T>A
10 papers
NM_000346.4
p.F154L
c.462C>A
10 papers
NM_000346.4
p.F154L
c.462C>G
10 papers
NM_000346.4
p.F154L
c.460T>C
3 papers
NM_000346.4
p.P153L
c.458C>T
1 paper
NM_000346.4
p.V155A
c.464T>C
12 papers
NM_000346.4
p.R152P
c.455G>C
1 paper
NM_000346.4
p.R152fs
c.454_455fs
1 paper
NM_000346.4
p.R152W
c.454C>T
2 papers
NM_000346.4
p.E157K
c.469G>A
1 paper
NM_000346.4
p.R152del1
c.454_455delCGG
1 paper
NM_000346.4
p.K151*
c.451A>T
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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."