Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q357_A358Fs

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.Q357_A358Fs
c.1070_1073delinsGTTFs
Surrounding Variants
1 paper
NM_000346.4
p.P360_P367del0
c.1080_1100del21
1 paper
NM_000346.4
p.Q357fs
c.1069_1070fs
1 paper
NM_000346.4
p.Q357*
c.1069C>T
1 paper
NM_000346.4
p.A358T
c.1072G>A
1 paper
NM_000346.4
p.P356R
c.1067C>G
1 paper
NM_000346.4
p.Q357_A371delFs
c.1070_1112del43
1 paper
NM_000346.4
p.P359_Q363del0
c.1075_1089del15
1 paper
NM_000346.4
p.P356fs
c.1066_1067fs
1 paper
NM_000346.4
p.P360insFs
c.1079_1080insC
2 papers
NM_000346.4
p.P360delFs
c.1079delC
1 paper
NM_000346.4
p.A355V
c.1064C>T
1 paper
NM_000346.4
p.A358_Q361ins1
c.1072_1083dup12
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