Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1

POU5F1

367 papers

RefSeq Summary

This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is as...

Pfam Domains

Pouaa 1–42UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 61–117UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 5 homeobox 1

HGNC Previous Symbol

OTF3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 185 variants
4 papers
NM_002701.6
p.E188E
c.564G>A
3 papers
NM_002701.6
p.P13T
c.37C>A
3 papers
NM_002701.6
p.G18R
c.52G>C
3 papers
NM_002701.6
p.G18R
c.52G>A
3 papers
NM_002701.6
p.R287G
c.859C>G
2 papers
NM_002701.6
p.S7S
c.21G>A
2 papers
NM_002701.6
p.W29C
c.87G>T
2 papers
NM_002701.6
p.W29C
c.87G>C
2 papers
NM_002701.6
p.V30I
c.88G>A
2 papers
NM_002701.6
p.C70Y
c.209G>A
2 papers
NM_002701.6
p.G81R
c.241G>A
2 papers
NM_002701.6
p.S93A
c.277T>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."