Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V155A

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.V155A
c.464T>C
Surrounding Variants
10 papers
NM_000346.4
p.F154L
c.462C>A
10 papers
NM_000346.4
p.F154L
c.462C>G
1 paper
NM_000346.4
p.F154Y
c.461T>A
1 paper
NM_000346.4
p.F154delFs
c.462delC
10 papers
NM_000346.4
p.F154L
c.460T>C
2 papers
NM_000346.4
p.E157K
c.469G>A
3 papers
NM_000346.4
p.P153L
c.458C>T
1 paper
NM_000346.4
p.E159_R162delFs
c.475_485del11
14 papers
NM_000346.4
p.A158T
c.472G>A
1 paper
NM_000346.4
p.A158_E159insFs
c.474_475dupGG
5 papers
NM_000346.4
p.A158V
c.473C>T
12 papers
NM_000346.4
p.R152P
c.455G>C
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