Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.Q294*

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.Q294*
c.880C>T
Surrounding Variants
1 paper
NM_002701.6
p.A293T
c.877G>A
1 paper
NM_002701.6
p.Y292*
c.876T>G
1 paper
NM_002701.6
p.Y292*
c.876T>A
1 paper
NM_002701.6
p.R295Q
c.884G>A
1 paper
NM_002701.6
p.D291N
c.871G>A
1 paper
NM_002701.6
p.S290N
c.869G>A
1 paper
NM_002701.6
p.S289S
c.867C>T
3 papers
NM_002701.6
p.R287G
c.859C>G
1 paper
NM_002701.6
p.G302E
c.905G>A
1 paper
NM_002701.6
p.G302G
c.906G>T
1 paper
NM_002701.6
p.G285D
c.854G>A
1 paper
NM_002701.6
p.G285C
c.853G>T
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