Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.D8V

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.D8V
c.23A>T
Surrounding Variants
2 papers
NM_002701.6
p.S7S
c.21G>A
1 paper
NM_002701.6
p.S7delins
c.20delinsC
1 paper
NM_002701.6
p.F9F
c.27C>T
1 paper
NM_002701.6
p.F11_S12delFs
c.33_34delAG
3 papers
NM_002701.6
p.P13T
c.37C>A
1 paper
NM_002701.6
p.G3R
c.7G>A
1 paper
NM_002701.6
p.P14L
c.41C>T
1 paper
NM_002701.6
p.M1delFs
c.3delC
1 paper
NM_002701.6
p.M1I
c.3G>T
1 paper
NM_002701.6
p.M1_A2insFs
c.3_4insA
1 paper
NM_002701.6
p.M1I
c.3G>C
1 paper
NM_002701.6
p.M1I
c.3G>A
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