Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.L229Q

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.L229Q
c.686T>A
Surrounding Variants
1 paper
NM_000306.4
p.L229V
c.685C>G
19 papers
NM_000306.4
p.E230K
c.688G>A
4 papers
NM_000306.4
p.A228S
c.682G>T
1 paper
NM_000306.4
p.K226R
c.677A>G
1 paper
NM_000306.4
p.K226T
c.677A>C
8 papers
NM_000306.4
p.F233L
c.697T>C
4 papers
NM_000306.4
p.F233S
c.698T>C
8 papers
NM_000306.4
p.F233L
c.699T>G
8 papers
NM_000306.4
p.F233L
c.699T>A
1 paper
NM_000306.4
p.A224T
c.670G>A
2 papers
NM_000306.4
p.S222Splc
c.666-5G>A
1 paper
NM_000306.4
p.N237insFs
c.711dupT
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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."