Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.I480L

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.I480L
c.1438A>C
Surrounding Variants
1 paper
NM_000346.4
p.P479P
c.1437C>A
1 paper
NM_000346.4
p.P479H
c.1436C>A
1 paper
NM_000346.4
p.A481T
c.1441G>A
1 paper
NM_000346.4
p.T478N
c.1433C>A
1 paper
NM_000346.4
p.D482delFs
c.1444delG
1 paper
NM_000346.4
p.T478_P479insAAT
c.1432_1436ins9
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.Y477insFs
c.1431dupC
1 paper
NM_000346.4
p.T478delFs
c.1432_1433delAC
2 papers
NM_000346.4
p.S484fs
c.1450_1451fs
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