Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q265*

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
2 papers
NM_000346.4
p.Q265*
c.793C>T
Surrounding Variants
1 paper
NM_000346.4
p.Q265fs
c.793_794fs
2 papers
NM_000346.4
p.R264K
c.791G>A
1 paper
NM_000346.4
p.R264T
c.791G>C
1 paper
NM_000346.4
p.P266insFs
c.796_797insC
1 paper
NM_000346.4
p.P266delFs
c.796delC
3 papers
NM_000346.4
p.R264fs
c.790_791fs
1 paper
NM_000346.4
p.P266fs
c.796_797fs
1 paper
NM_000346.4
p.P266_D269delFs
c.798_807del10
1 paper
NM_000346.4
p.P266L
c.797C>T
1 paper
NM_000346.4
p.G263_F270del0
c.789_809del21
2 papers
NM_000346.4
p.P267fs
c.799_800fs
1 paper
NM_000346.4
p.G263fs
c.787_788fs
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