Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.A110T

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.A110T
c.328G>A
Surrounding Variants
1 paper
NM_002701.6
p.S111A
c.331T>G
1 paper
NM_002701.6
p.S111F
c.332C>T
1 paper
NM_002701.6
p.P112S
c.334C>T
1 paper
NM_002701.6
p.S107S
c.321C>G
1 paper
NM_002701.6
p.P114_C115insFs
c.342_343insG
1 paper
NM_002701.6
p.C115S
c.343T>A
1 paper
NM_002701.6
p.T116S
c.346A>T
1 paper
NM_002701.6
p.T116S
c.347C>G
1 paper
NM_002701.6
p.G102R
c.304G>C
1 paper
NM_002701.6
p.G102R
c.304G>A
1 paper
NM_002701.6
p.T118I
c.353C>T
1 paper
NM_002701.6
p.P119fs
c.355_356fs
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."