Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q361*

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.Q361*
c.1081C>T
Surrounding Variants
1 paper
NM_000346.4
p.Q361fs
c.1081_1082fs
1 paper
NM_000346.4
p.P360L
c.1079C>T
1 paper
NM_000346.4
p.Q361H
c.1083G>C
1 paper
NM_000346.4
p.Q361H
c.1083G>T
1 paper
NM_000346.4
p.P360fs
c.1078_1079fs
2 papers
NM_000346.4
p.P360fs
c.1078_1079fs
1 paper
NM_000346.4
p.P362L
c.1085C>T
1 paper
NM_000346.4
p.Q363*
c.1087C>T
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.P359_Q363del0
c.1075_1089del15
1 paper
NM_000346.4
p.A358T
c.1072G>A
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