Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V77_S78delFs

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.V77_S78delFs
c.231_232delCA
Surrounding Variants
1 paper
NM_000346.4
p.V77F
c.229G>T
21 papers
NM_000346.4
p.A76E
c.227C>A
1 paper
NM_000346.4
p.S78N
c.233G>A
1 paper
NM_000346.4
p.A76S
c.226G>T
3 papers
NM_000346.4
p.Q79P
c.236A>C
1 paper
NM_000346.4
p.Q79L
c.236A>T
3 papers
NM_000346.4
p.E75K
c.223G>A
1 paper
NM_000346.4
p.E75Q
c.223G>C
1 paper
NM_000346.4
p.E75*
c.223G>T
1 paper
NM_000346.4
p.E75_V80insFs
c.224_240dup17
1 paper
NM_000346.4
p.R74P
c.221G>C
1 paper
NM_000346.4
p.V80E
c.239T>A
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