Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.P82P

POU1F1

295 papers

RefSeq Summary

This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormo...

Pfam Domains

Pouaa 127–198UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 215–271UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 1 homeobox 1

HGNC Previous Symbol

PIT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000306.4
p.P82P
c.246T>G
Surrounding Variants
2 papers
NM_000306.4
p.P82P
c.246T>C
1 paper
NM_000306.4
p.P82P
c.246T>A
1 paper
NM_000306.4
p.P82L
c.245C>T
1 paper
NM_000306.4
p.P82S
c.244C>T
1 paper
NM_000306.4
p.P82T
c.244C>A
1 paper
NM_000306.4
p.F81L
c.243T>G
2 papers
NM_000306.4
p.F81F
c.243T>C
1 paper
NM_000306.4
p.F81L
c.243T>A
2 papers
NM_000306.4
p.D83D
c.249C>T
1 paper
NM_000306.4
p.D83E
c.249C>G
1 paper
NM_000306.4
p.D83E
c.249C>A
1 paper
NM_000306.4
p.L74_Y79delFs
c.221_236del16
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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."