Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.P45S

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
Selected Variant
1 paper
NM_002701.6
p.P45S
c.133C>T
Surrounding Variants
1 paper
NM_002701.6
p.P53R
c.158C>G
1 paper
NM_002701.6
p.L36V
c.106C>G
1 paper
NM_002701.6
p.W35L
c.104G>T
1 paper
NM_002701.6
p.S55insFs
c.163_164insG
1 paper
NM_002701.6
p.W35G
c.103T>G
1 paper
NM_002701.6
p.R33L
c.98G>T
1 paper
NM_002701.6
p.V57M
c.169G>A
2 papers
NM_002701.6
p.V30I
c.88G>A
2 papers
NM_002701.6
p.W29C
c.87G>T
2 papers
NM_002701.6
p.W29C
c.87G>C
1 paper
NM_002701.6
p.I60I
c.180T>C
1 paper
NM_002701.6
p.P61S
c.181C>T
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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."