Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R271delFs

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.R271delFs
c.811delC
Surrounding Variants
2 papers
NM_000346.4
p.F270L
c.810C>A
2 papers
NM_000346.4
p.F270L
c.810C>G
1 paper
NM_000346.4
p.F270I
c.808T>A
2 papers
NM_000346.4
p.F270L
c.808T>C
2 papers
NM_000346.4
p.R271fs
c.811_812fs
1 paper
NM_000346.4
p.F270delFs
c.808_809delTT
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
2 papers
NM_000346.4
p.D272del1
c.814_815delGAC
1 paper
NM_000346.4
p.R271_D272insFs
c.813_814ins8
1 paper
NM_000346.4
p.D269Y
c.805G>T
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