Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.F6L

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.F6L
c.18T>A
Surrounding Variants
1 paper
NM_000306.4
p.F6L
c.18T>G
1 paper
NM_000306.4
p.F6L
c.16T>C
1 paper
NM_000306.4
p.S8L
c.23C>T
12 papers
NM_000306.4
p.Q4*
c.10C>T
4 papers
NM_000306.4
p.A9A
c.27T>C
2 papers
NM_000306.4
p.D10G
c.29A>G
1 paper
NM_000306.4
p.T11A
c.31A>G
1 paper
NM_000306.4
p.M1I
c.3G>T
3 papers
NM_000306.4
p.M1_S2insFs
c.3_4insA
1 paper
NM_000306.4
p.M1I
c.3G>C
1 paper
NM_000306.4
p.M1R
c.2T>G
4 papers
NM_000306.4
p.M1T
c.2T>C
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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."