Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P374fs

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
2 papers
NM_000346.4
p.P374fs
c.1120_1121fs
Surrounding Variants
1 paper
NM_000346.4
p.P374fs
c.1120_1121fs
1 paper
NM_000346.4
p.Q375fs
c.1123_1124fs
6 papers
NM_000346.4
p.Q375*
c.1123C>T
1 paper
NM_000346.4
p.P374insFs
c.1121_1122insC
1 paper
NM_000346.4
p.Q375R
c.1124A>G
1 paper
NM_000346.4
p.P374delFs
c.1121delC
1 paper
NM_000346.4
p.P373_P374del1
c.1118_1120delCCC
1 paper
NM_000346.4
p.Q375H
c.1125G>C
2 papers
NM_000346.4
p.Q375H
c.1125G>T
1 paper
NM_000346.4
p.A372S
c.1114G>T
1 paper
NM_000346.4
p.A372del1
c.1114_1116delGCA
1 paper
NM_000346.4
p.A371_A372insFs
c.1113_1114insG
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