Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.D244delFs

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.D244delFs
c.730delG
Surrounding Variants
1 paper
NM_000346.4
p.D244fs
c.730_731fs
1 paper
NM_000346.4
p.T243P
c.727A>C
1 paper
NM_000346.4
p.V245insFs
c.733dupG
1 paper
NM_000346.4
p.V245insFs
c.734_735dupTG
1 paper
NM_000346.4
p.K242R
c.725A>G
1 paper
NM_000346.4
p.V245L
c.733G>C
1 paper
NM_000346.4
p.V245L
c.733G>T
1 paper
NM_000346.4
p.V245fs
c.733_734fs
6 papers
NM_000346.4
p.K242Q
c.724A>C
1 paper
NM_000346.4
p.Q246insFs
c.736_737insC
1 paper
NM_000346.4
p.Q246fs
c.736_737fs
2 papers
NM_000346.4
p.Q246*
c.736C>T
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