Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P48T

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.P48T
c.142C>A
Surrounding Variants
1 paper
NM_000346.4
p.R47Q
c.140G>A
2 papers
NM_000346.4
p.Q49L
c.146A>T
1 paper
NM_000346.4
p.R47insFs
c.140_141ins4
1 paper
NM_000346.4
p.T46A
c.136A>G
1 paper
NM_000346.4
p.E50K
c.148G>A
1 paper
NM_000346.4
p.E50*
c.148G>T
1 paper
NM_000346.4
p.E50V
c.149A>T
1 paper
NM_000346.4
p.N45N
c.135C>T
1 paper
NM_000346.4
p.N45S
c.134A>G
2 papers
NM_000346.4
p.E50D
c.150G>C
2 papers
NM_000346.4
p.E50D
c.150G>T
1 paper
NM_000346.4
p.N45Y
c.133A>T
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