Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.D251H

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.D251H
c.751G>C
Surrounding Variants
1 paper
NM_000346.4
p.D251N
c.751G>A
2 papers
NM_000346.4
p.K249R
c.746A>G
1 paper
NM_000346.4
p.K249_A250delFs
c.747_748delGG
1 paper
NM_000346.4
p.K253_R254del2
c.757_761del6
1 paper
NM_000346.4
p.K253Q
c.757A>C
1 paper
NM_000346.4
p.K253R
c.758A>G
1 paper
NM_000346.4
p.G248G
c.744C>G
1 paper
NM_000346.4
p.G248V
c.743G>T
2 papers
NM_000346.4
p.R254*
c.760C>T
1 paper
NM_000346.4
p.G248ins2
c.742_743ins6
1 paper
NM_000346.4
p.P247P
c.741G>T
1 paper
NM_000346.4
p.R254L
c.761G>T
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