Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V486A

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.V486A
c.1457T>C
Surrounding Variants
1 paper
NM_000346.4
p.V486_P487insGT
c.1456_1460ins6
2 papers
NM_000346.4
p.V486fs
c.1456_1457fs
1 paper
NM_000346.4
p.P487S
c.1459C>T
1 paper
NM_000346.4
p.G485fs
c.1453_1454fs
3 papers
NM_000346.4
p.V486insFs
c.1456_1457insG
1 paper
NM_000346.4
p.S484_G485delFs
c.1452_1453delTG
1 paper
NM_000346.4
p.I489insFs
c.1465dupA
2 papers
NM_000346.4
p.S484fs
c.1450_1451fs
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.D482delFs
c.1444delG
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