Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.H28R

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.H28R
c.83A>G
Surrounding Variants
6 papers
NM_000306.4
p.I26T
c.77T>C
1 paper
NM_000306.4
p.S30R
c.90T>A
1 paper
NM_000306.4
p.A31V
c.92C>T
1 paper
NM_000306.4
p.A31insFs
c.92dupC
1 paper
NM_000306.4
p.A32fs
c.94_95fs
36 papers
NM_000306.4
p.P24L
c.71C>T
1 paper
NM_000306.4
p.P24R
c.71C>G
1 paper
NM_000306.4
p.E33K
c.97G>A
1 paper
NM_000306.4
p.E33G
c.98A>G
1 paper
NM_000306.4
p.T22T
c.66T>A
1 paper
NM_000306.4
p.C34Y
c.101G>A
1 paper
NM_000306.4
p.A21G
c.62C>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."