Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.E190D

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.E190D
c.570G>C
Surrounding Variants
1 paper
NM_000346.4
p.E190D
c.570G>T
1 paper
NM_000346.4
p.E191delFs
c.571delG
1 paper
NM_000346.4
p.E191K
c.571G>A
1 paper
NM_000346.4
p.E191fs
c.571_572fs
2 papers
NM_000346.4
p.E190*
c.568G>T
1 paper
NM_000346.4
p.A192P
c.574G>C
1 paper
NM_000346.4
p.A189T
c.565G>A
1 paper
NM_000346.4
p.A189insFs
c.566dupC
1 paper
NM_000346.4
p.E188D
c.564G>C
1 paper
NM_000346.4
p.E188D
c.564G>T
1 paper
NM_000346.4
p.E188G
c.563A>G
1 paper
NM_000346.4
p.E188fs
c.562_563fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."