Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P430A

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.P430A
c.1288C>G
Surrounding Variants
1 paper
NM_000346.4
p.P430S
c.1288C>T
1 paper
NM_000346.4
p.S431fs
c.1291_1292fs
1 paper
NM_000346.4
p.S431F
c.1292C>T
1 paper
NM_000346.4
p.S429delFs
c.1285delA
1 paper
NM_000346.4
p.Y428N
c.1282T>A
1 paper
NM_000346.4
p.Y432insFs
c.1294_1295insA
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
3 papers
NM_000346.4
p.P433L
c.1298C>T
1 paper
NM_000346.4
p.P426fs
c.1276_1277fs
1 paper
NM_000346.4
p.P434S
c.1300C>T
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