Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.R217*

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
2 papers
NM_000306.4
p.R217*
c.649C>T
Surrounding Variants
1 paper
NM_000306.4
p.R217R
c.649C>A
1 paper
NM_000306.4
p.K216R
c.647A>G
27 papers
NM_000306.4
p.K216E
c.646A>G
1 paper
NM_000306.4
p.R218K
c.653G>A
1 paper
NM_000306.4
p.R215R
c.643A>C
2 papers
NM_000306.4
p.E212_R213delFs
c.634_638del5
2 papers
NM_000306.4
p.R213K
c.638G>A
2 papers
NM_000306.4
p.R213fs
c.637_638fs
1 paper
NM_000306.4
p.I221T
c.662T>C
2 papers
NM_000306.4
p.S222Splc
c.665+1G>T
2 papers
NM_000306.4
p.A210delFs
c.629delG
1 paper
NM_000306.4
p.A210V
c.629C>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."