Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.H406Y

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.H406Y
c.1216C>T
Surrounding Variants
1 paper
NM_000346.4
p.H406fs
c.1216_1217fs
1 paper
NM_000346.4
p.H406insFs
c.1216_1217ins16
1 paper
NM_000346.4
p.H406fs
c.1216_1217fs
1 paper
NM_000346.4
p.S405_Q412delFs
c.1215_1234del20
1 paper
NM_000346.4
p.S405fs
c.1213_1214fs
1 paper
NM_000346.4
p.P404P
c.1212C>A
1 paper
NM_000346.4
p.Y407*
c.1221C>A
1 paper
NM_000346.4
p.P404insFs
c.1211_1212insTA
1 paper
NM_000346.4
p.Y407*
c.1221C>G
1 paper
NM_000346.4
p.P404L
c.1211C>T
2 papers
NM_000346.4
p.E409_Q410del2
c.1225_1229del6
1 paper
NM_000346.4
p.S403insFs
c.1209dupC
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