Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.R265W

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
7 papers
NM_000306.4
p.R265W
c.793C>T
Surrounding Variants
1 paper
NM_000306.4
p.Q267*
c.799C>T
1 paper
NM_000306.4
p.Q267E
c.799C>G
3 papers
NM_000306.4
p.F262L
c.786T>G
3 papers
NM_000306.4
p.F262L
c.786T>A
3 papers
NM_000306.4
p.F262L
c.784T>C
22 papers
NM_000306.4
p.W261C
c.783G>T
22 papers
NM_000306.4
p.W261C
c.783G>C
1 paper
NM_000306.4
p.W261*
c.782G>A
5 papers
NM_000306.4
p.V260insFs
c.778_779insA
89 papers
NM_000306.4
p.R271W
c.811C>T
1 paper
NM_001122757.3
p.R285fs
c.853_854fs
1 paper
NM_000306.4
p.R271L
c.812G>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."