Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.D274fs

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.D274fs
c.820_821fs
Surrounding Variants
1 paper
NM_000346.4
p.D274fs
c.820_821fs
1 paper
NM_000346.4
p.D274_E277delFs
c.820_829del10
3 papers
NM_000346.4
p.V273L
c.817G>C
1 paper
NM_000346.4
p.V273fs
c.817_818fs
3 papers
NM_000346.4
p.V273L
c.817G>T
2 papers
NM_000346.4
p.V273insFs
c.818_819dupTG
4 papers
NM_000346.4
p.G276C
c.826G>T
1 paper
NM_000346.4
p.D272Y
c.814G>T
1 paper
NM_000346.4
p.R271_D272insFs
c.813_814ins8
1 paper
NM_000346.4
p.R271H
c.812G>A
5 papers
NM_000346.4
p.R271P
c.812G>C
1 paper
NM_000346.4
p.R271L
c.812G>T
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