Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.K177M

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.K177M
c.530A>T
Surrounding Variants
1 paper
NM_002701.6
p.K177*
c.529A>T
1 paper
NM_002701.6
p.S180insFs
c.538_539ins7
1 paper
NM_002701.6
p.T183delFs
c.549delG
2 papers
NM_002701.6
p.R186C
c.556C>T
1 paper
NM_002701.6
p.C185insFs
c.554_555ins7
1 paper
NM_002701.6
p.R186H
c.557G>A
2 papers
NM_002701.6
p.F187fs
c.559_560fs
1 paper
NM_002701.6
p.E188Q
c.562G>C
4 papers
NM_002701.6
p.E188E
c.564G>A
1 paper
NM_002701.6
p.A189V
c.566C>T
1 paper
NM_002701.6
p.L192F
c.574C>T
1 paper
NM_002701.6
p.K195E
c.583A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."