Varaico: Literature-Extracted Genetic Variants

Gene:SOX11

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
1–12 of 260 variants
19 papers
NM_003108.4
p.Y116C
c.347A>G
15 papers
NM_003108.4
p.S60P
c.178T>C
13 papers
NM_003108.4
p.A102V
c.305C>T
12 papers
NM_003108.4
p.K50N
c.150G>C
12 papers
NM_003108.4
p.K50N
c.150G>T
11 papers
NM_003108.4
p.P120H
c.359C>A
11 papers
NM_003108.4
p.D233del1
c.697_698delGAC
8 papers
NM_003108.4
p.C29*
c.87C>A
7 papers
NM_003108.4
p.G84V
c.251G>T
6 papers
NM_003108.4
p.G47S
c.139G>A
6 papers
NM_003108.4
p.K50Q
c.148A>C
6 papers
NM_003108.4
p.A142G
c.425C>G
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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."