Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P224L

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.P224L
c.671C>T
Surrounding Variants
2 papers
NM_000346.4
p.G225S
c.673G>A
1 paper
NM_000346.4
p.G225fs
c.673_674fs
1 paper
NM_000346.4
p.G225fs
c.673_674fs
1 paper
NM_000346.4
p.G225G
c.675C>T
1 paper
NM_000346.4
p.P224_G225insFs
c.672_673insC
1 paper
NM_000346.4
p.E226K
c.676G>A
2 papers
NM_000346.4
p.E226*
c.676G>T
1 paper
NM_000346.4
p.H227N
c.679C>A
1 paper
NM_000346.4
p.H227D
c.679C>G
1 paper
NM_000346.4
p.H227Y
c.679C>T
1 paper
NM_000346.4
p.H222_P224insFs
c.665_672dup8
1 paper
NM_000346.4
p.V221M
c.661G>A
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