Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.S20_A21insFs

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.S20_A21insFs
c.60_61insG
Surrounding Variants
1 paper
NM_000306.4
p.A21P
c.61G>C
1 paper
NM_000306.4
p.S20A
c.58T>G
1 paper
NM_000306.4
p.S20T
c.58T>A
1 paper
NM_000306.4
p.A21G
c.62C>G
1 paper
NM_000306.4
p.T22T
c.66T>A
1 paper
NM_000306.4
p.D18E
c.54C>G
1 paper
NM_000306.4
p.D18E
c.54C>A
1 paper
NM_000306.4
p.S17T
c.49T>A
36 papers
NM_000306.4
p.P24L
c.71C>T
1 paper
NM_000306.4
p.P24R
c.71C>G
6 papers
NM_000306.4
p.I26T
c.77T>C
19 papers
NM_000306.4
p.P14L
c.41C>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."