Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.M218I

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.M218I
c.654G>T
Surrounding Variants
1 paper
NM_000346.4
p.M218I
c.654G>A
1 paper
NM_000346.4
p.M218I
c.654G>C
1 paper
NM_000346.4
p.E220*
c.658G>T
1 paper
NM_000346.4
p.E220G
c.659A>G
1 paper
NM_000346.4
p.S216S
c.648C>T
1 paper
NM_000346.4
p.E220D
c.660G>C
1 paper
NM_000346.4
p.E220D
c.660G>T
1 paper
NM_000346.4
p.S216F
c.647C>T
1 paper
NM_000346.4
p.V221M
c.661G>A
1 paper
NM_000346.4
p.H222_P224insFs
c.665_672dup8
1 paper
NM_000346.4
p.S216_G225del10
c.646_674del30
1 paper
NM_000346.4
p.S215fs
c.643_644fs
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