Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V71M

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.V71M
c.211G>A
Surrounding Variants
1 paper
NM_000346.4
p.V71L
c.211G>C
1 paper
NM_000346.4
p.V71L
c.211G>T
1 paper
NM_000346.4
p.P70P
c.210C>A
1 paper
NM_000346.4
p.P70R
c.209C>G
1 paper
NM_000346.4
p.P70S
c.208C>T
1 paper
NM_000346.4
p.C72S
c.214T>A
1 paper
NM_000346.4
p.C72_E75delFs
c.216_225del10
1 paper
NM_000346.4
p.C72S
c.215G>C
1 paper
NM_000346.4
p.I73V
c.217A>G
1 paper
NM_000346.4
p.I73fs
c.217_218fs
2 papers
NM_000346.4
p.I73N
c.218T>A
4 papers
NM_000346.4
p.I73T
c.218T>C
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