Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q368_P374del0

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.Q368_P374del0
c.1102_1122del21
Surrounding Variants
2 papers
NM_000346.4
p.Q368insFs
c.1103_1104insA
1 paper
NM_000346.4
p.Q368fs
c.1102_1103fs
1 paper
NM_000346.4
p.P367fs
c.1099_1100fs
1 paper
NM_000346.4
p.P367A
c.1099C>G
1 paper
NM_000346.4
p.P367fs
c.1099_1100fs
2 papers
NM_000346.4
p.Q369*
c.1105C>T
1 paper
NM_000346.4
p.Q369P
c.1106A>C
1 paper
NM_000346.4
p.P366S
c.1096C>T
1 paper
NM_000346.4
p.Q369Q
c.1107G>A
1 paper
NM_000346.4
p.A365_P366insFs
c.1095_1096insC
1 paper
NM_000346.4
p.P370A
c.1108C>G
2 papers
NM_000346.4
p.A365V
c.1094C>T
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