Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.N39delFs

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.N39delFs
c.116_117delGT
Surrounding Variants
1 paper
NM_000306.4
p.A41_T42insT
c.121_125ins3
2 papers
NM_000306.4
p.S38del1
c.112_113delGGA
1 paper
NM_000306.4
p.S38fs
c.112_113fs
1 paper
NM_000306.4
p.T42P
c.124A>C
1 paper
NM_000306.4
p.T42N
c.125C>A
1 paper
NM_000306.4
p.S38_T42delFs
c.112_124del13
2 papers
NM_000306.4
p.V37A
c.110T>C
1 paper
NM_000306.4
p.V44M
c.130G>A
1 paper
NM_000306.4
p.L35L
c.105A>T
1 paper
NM_000306.4
p.M45L
c.133A>T
1 paper
NM_000306.4
p.M45L
c.133A>C
1 paper
NM_000306.4
p.C34Y
c.101G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."