Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.D482delFs

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.D482delFs
c.1444delG
Surrounding Variants
1 paper
NM_000346.4
p.D482N
c.1444G>A
1 paper
NM_000346.4
p.D482fs
c.1444_1445fs
1 paper
NM_000346.4
p.D482Y
c.1444G>T
1 paper
NM_000346.4
p.A481T
c.1441G>A
1 paper
NM_000346.4
p.I480L
c.1438A>C
1 paper
NM_000346.4
p.P479P
c.1437C>A
1 paper
NM_000346.4
p.P479H
c.1436C>A
2 papers
NM_000346.4
p.S484fs
c.1450_1451fs
1 paper
NM_000346.4
p.S484_G485delFs
c.1452_1453delTG
3 papers
NM_000346.4
p.V486insFs
c.1456_1457insG
1 paper
NM_000346.4
p.T478N
c.1433C>A
1 paper
NM_000346.4
p.G485fs
c.1453_1454fs
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."