Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.S179R

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
14 papers
NM_000306.4
p.S179R
c.537C>A
Surrounding Variants
15 papers
NM_000306.4
p.S179R
c.537C>G
NM_001122757.3
p.S205R
c.615C>G
14 papers
NM_000306.4
p.S179R
c.535A>C
1 paper
NM_000306.4
p.K181E
c.541A>G
1 paper
NM_000306.4
p.Q177*
c.529C>T
2 papers
NM_000306.4
p.N175I
c.524A>T
20 papers
NM_000306.4
p.E174G
c.521A>G
1 paper
NM_000306.4
p.E174*
c.520G>T
1 paper
NM_000306.4
p.F173C
c.518T>G
1 paper
NM_000306.4
p.L186R
c.557T>G
2 papers
NM_000306.4
p.R172L
c.515G>T
13 papers
NM_000306.4
p.R172Q
c.515G>A
31 papers
NM_000306.4
p.R172*
c.514C>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."