Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q340R

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.Q340R
c.1019A>G
Surrounding Variants
2 papers
NM_000346.4
p.Q339*
c.1015C>T
1 paper
NM_000346.4
p.P342delFs
c.1024_1025delCC
1 paper
NM_000346.4
p.P342fs
c.1024_1025fs
1 paper
NM_000346.4
p.P343L
c.1028C>T
2 papers
NM_000346.4
p.P346delFs
c.1037delC
1 paper
NM_000346.4
p.P345A
c.1033C>G
1 paper
NM_000346.4
p.P345S
c.1033C>T
6 papers
NM_000346.4
p.W335*
c.1005G>A
1 paper
NM_000346.4
p.W335C
c.1005G>C
1 paper
NM_000346.4
p.W335C
c.1005G>T
5 papers
NM_000346.4
p.W335*
c.1004G>A
5 papers
NM_000346.4
p.P346fs
c.1036_1037fs
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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."