Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.K253_R254del2

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.K253_R254del2
c.757_761del6
Surrounding Variants
1 paper
NM_000346.4
p.K253Q
c.757A>C
1 paper
NM_000346.4
p.K253R
c.758A>G
2 papers
NM_000346.4
p.R254*
c.760C>T
1 paper
NM_000346.4
p.D251N
c.751G>A
1 paper
NM_000346.4
p.D251H
c.751G>C
1 paper
NM_000346.4
p.R254L
c.761G>T
1 paper
NM_000346.4
p.E255fs
c.763_764fs
1 paper
NM_000346.4
p.G256_R257insFs
c.768_769insG
1 paper
NM_000346.4
p.G256_R257insFs
c.768_769insGG
1 paper
NM_000346.4
p.G256delFs
c.768delG
1 paper
NM_000346.4
p.E255_P267delFs
c.765_799del35
2 papers
NM_000346.4
p.K249R
c.746A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."