Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.A99V

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.A99V
c.296C>T
Surrounding Variants
1 paper
NM_000306.4
p.L98insFs
c.293_294insC
1 paper
NM_000306.4
p.L98Q
c.293T>A
1 paper
NM_000306.4
p.L97P
c.290T>C
1 paper
NM_000306.4
p.L97F
c.289C>T
2 papers
NM_000306.4
p.D101delFs
c.301_302delTC
4 papers
NM_000306.4
p.P102_T103insFs
c.306_307insAG
1 paper
NM_000306.4
p.Q95H
c.285G>T
1 paper
NM_000306.4
p.Q95H
c.285G>C
1 paper
NM_000306.4
p.Q95Q
c.285G>A
3 papers
NM_000306.4
p.T103insFs
c.307_308insAG
1 paper
NM_000306.4
p.Q95L
c.284A>T
1 paper
NM_000306.4
p.H94D
c.280C>G
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."