Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P58H

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.P58H
c.173C>A
Surrounding Variants
1 paper
NM_000346.4
p.P58T
c.172C>A
1 paper
NM_000346.4
p.D59Y
c.175G>T
1 paper
NM_000346.4
p.E57G
c.170A>G
1 paper
NM_000346.4
p.E57fs
c.169_170fs
1 paper
NM_000346.4
p.L60V
c.178C>G
1 paper
NM_000346.4
p.G56_L60Fs
c.168_179delinsAGFs
1 paper
NM_000346.4
p.G56C
c.166G>T
1 paper
NM_000346.4
p.L60L
c.180G>T
1 paper
NM_000346.4
p.K61Q
c.181A>C
1 paper
NM_000346.4
p.K61M
c.182A>T
1 paper
NM_000346.4
p.G56delFs
c.166delG
1 paper
NM_000346.4
p.K61K
c.183G>A
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