Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1

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
1–12 of 382 variants
89 papers
NM_000306.4
p.R271W
c.811C>T
38 papers
NM_000306.4
p.E250*
c.748G>T
36 papers
NM_000306.4
p.P24L
c.71C>T
34 papers
NM_000306.4
p.R143Q
c.428G>A
34 papers
NM_000306.4
p.A158P
c.472G>C
34 papers
NM_000306.4
p.P239S
c.715C>T
31 papers
NM_000306.4
p.R172*
c.514C>T
29 papers
NM_000306.4
p.F135C
c.404T>G
27 papers
NM_000306.4
p.K216E
c.646A>G
22 papers
NM_000306.4
p.W261C
c.783G>T
22 papers
NM_000306.4
p.W261C
c.783G>C
20 papers
NM_000306.4
p.E174G
c.521A>G
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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."