Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P434P

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.P434P
c.1302C>A
Surrounding Variants
1 paper
NM_000346.4
p.I435insFs
c.1303_1304insC
1 paper
NM_000346.4
p.I435fs
c.1303_1304fs
1 paper
NM_000346.4
p.P434S
c.1300C>T
1 paper
NM_000346.4
p.P434fs
c.1300_1301fs
3 papers
NM_000346.4
p.P433L
c.1298C>T
1 paper
NM_000346.4
p.T436I
c.1307C>T
2 papers
NM_000346.4
p.Y432*
c.1296C>A
2 papers
NM_000346.4
p.Y432*
c.1296C>G
1 paper
NM_000346.4
p.Y432Y
c.1296C>T
1 paper
NM_000346.4
p.R437G
c.1309C>G
7 papers
NM_000346.4
p.R437C
c.1309C>T
1 paper
NM_000346.4
p.R437L
c.1310G>T
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