Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.H396fs

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.H396fs
c.1186_1187fs
Surrounding Variants
1 paper
NM_000346.4
p.H396R
c.1187A>G
2 papers
NM_000346.4
p.H396L
c.1187A>T
3 papers
NM_000346.4
p.T395_H396insFs
c.1185_1186dupGC
1 paper
NM_000346.4
p.I397I
c.1191C>A
1 paper
NM_000346.4
p.R394Q
c.1181G>A
1 paper
NM_000346.4
p.R394L
c.1181G>T
1 paper
NM_000346.4
p.K398Q
c.1192A>C
4 papers
NM_000346.4
p.R394G
c.1180C>G
7 papers
NM_000346.4
p.R394*
c.1180C>T
1 paper
NM_000346.4
p.K398N
c.1194G>C
1 paper
NM_000346.4
p.T399insFs
c.1195dupA
1 paper
NM_000346.4
p.K398N
c.1194G>T
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