Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.M10L

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.M10L
c.28A>C
Surrounding Variants
2 papers
NM_000346.4
p.M10V
c.28A>G
1 paper
NM_000346.4
p.M10I
c.30G>A
1 paper
NM_000346.4
p.M10I
c.30G>C
1 paper
NM_000346.4
p.M10I
c.30G>T
1 paper
NM_000346.4
p.D12fs
c.34_35fs
1 paper
NM_000346.4
p.F7I
c.19T>A
1 paper
NM_000346.4
p.P6H
c.17C>A
1 paper
NM_000346.4
p.P6S
c.16C>T
1 paper
NM_000346.4
p.Q14_E15delFs
c.41_44del4
1 paper
NM_000346.4
p.D5E
c.15C>A
1 paper
NM_000346.4
p.D5V
c.14A>T
1 paper
NM_000346.4
p.P6delFs
c.18delC
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