Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.Y116C

SOX11

184 papers

RefSeq Summary

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. Th...

Pfam Domains

HMG_boxaa 49–117UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 11

HGNC Previous Names

SRY (sex determining region Y)-box 11; SRY-box 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
19 papers
NM_003108.4
p.Y116C
c.347A>G
Surrounding Variants
1 paper
NM_003108.4
p.K117N
c.351G>T
1 paper
NM_003108.4
p.P114P
c.342C>A
1 paper
NM_003108.4
p.Y118insFs
c.354dupC
1 paper
NM_003108.4
p.Y118C
c.353A>G
1 paper
NM_003108.4
p.P114S
c.340C>T
1 paper
NM_003108.4
p.R119delFs
c.356delG
1 paper
NM_003108.4
p.Y113C
c.338A>G
4 papers
NM_003108.4
p.Y113H
c.337T>C
11 papers
NM_003108.4
p.P120H
c.359C>A
1 paper
NM_003108.4
p.P120L
c.359C>T
1 paper
NM_003108.4
p.P120P
c.360C>T
1 paper
NM_003108.4
p.R121_K131del11
c.361_392del33
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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."