Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.E120D

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.E120D
c.360G>C
Surrounding Variants
1 paper
NM_000306.4
p.E120D
c.360G>T
2 papers
NM_000306.4
p.K116_L117del2
c.346_350del6
2 papers
NM_000306.4
p.M124V
c.370A>G
3 papers
NM_000306.4
p.L117M
c.349T>A
1 paper
NM_000306.4
p.K116E
c.346A>G
1 paper
NM_000306.4
p.S126A
c.376T>G
1 paper
NM_000306.4
p.S115delFs
c.343delT
1 paper
NM_000306.4
p.S115fs
c.343_344fs
2 papers
NM_000306.4
p.R113Q
c.338G>A
2 papers
NM_000306.4
p.R113W
c.337C>T
2 papers
NM_000306.4
p.I129delFs
c.387delG
1 paper
NM_000306.4
p.E131*
c.391G>T
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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."