Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.F204delins

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.F204delins
c.611_612delinsAA
Surrounding Variants
1 paper
NM_000346.4
p.F204V
c.610T>G
2 papers
NM_000346.4
p.F204fs
c.610_611fs
1 paper
NM_000346.4
p.K205R
c.614A>G
1 paper
NM_000346.4
p.I203T
c.608T>C
1 paper
NM_000346.4
p.P200P
c.600C>A
1 paper
NM_000346.4
p.Q208fs
c.622_623fs
4 papers
NM_000346.4
p.Q208*
c.622C>T
1 paper
NM_000346.4
p.P200fs
c.598_599fs
1 paper
NM_000346.4
p.A209T
c.625G>A
1 paper
NM_000346.4
p.A209V
c.626C>T
1 paper
NM_000346.4
p.S199A
c.595T>G
1 paper
NM_000346.4
p.S199insFs
c.596_597insC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."