Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.R168insFs

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_001122757.3
p.R168insFs
c.502_503insT
Surrounding Variants
3 papers
NM_000306.4
p.R143*
c.427C>T
2 papers
NM_000306.4
p.R143G
c.427C>G
1 paper
NM_000306.4
p.R142delFs
c.426delT
9 papers
NM_000306.4
p.R143L
c.428G>T
34 papers
NM_000306.4
p.R143Q
c.428G>A
9 papers
NM_000306.4
p.K145*
c.433A>T
1 paper
NM_000306.4
p.L146*
c.437T>G
1 paper
NM_000306.4
p.L146*
c.437T>A
1 paper
NM_000306.4
p.G147Splc
c.439+1G>A
1 paper
NM_000306.4
p.A136G
c.407C>G
1 paper
NM_000306.4
p.A136S
c.406G>T
1 paper
NM_000306.4
p.A136P
c.406G>C
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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."