Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.A133T

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.A133T
c.397G>A
Surrounding Variants
2 papers
NM_000346.4
p.A133G
c.398C>G
1 paper
NM_000346.4
p.N132N
c.396C>T
1 paper
NM_000346.4
p.N132fs
c.394_395fs
2 papers
NM_000346.4
p.E134*
c.400G>T
1 paper
NM_000346.4
p.H131fs
c.391_392fs
1 paper
NM_000346.4
p.L135F
c.403C>T
1 paper
NM_000346.4
p.L130delFs
c.390delG
2 papers
NM_000346.4
p.K137delFs
c.409_410delAA
1 paper
NM_000346.4
p.K137R
c.410A>G
1 paper
NM_000346.4
p.P128L
c.383C>T
1 paper
NM_000346.4
p.T138K
c.413C>A
2 papers
NM_000346.4
p.Y127C
c.380A>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."