Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.L186R

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.L186R
c.557T>G
Surrounding Variants
1 paper
NM_000306.4
p.A188T
c.562G>A
1 paper
NM_000306.4
p.K181E
c.541A>G
1 paper
NM_000306.4
p.W193insFs
c.577_578insCT
17 papers
NM_000306.4
p.W193R
c.577T>C
17 papers
NM_000306.4
p.W193R
c.577T>A
15 papers
NM_000306.4
p.S179R
c.537C>G
NM_001122757.3
p.S205R
c.615C>G
14 papers
NM_000306.4
p.S179R
c.537C>A
4 papers
NM_000306.4
p.W193*
c.578G>A
4 papers
NM_000306.4
p.W193*
c.579G>A
14 papers
NM_000306.4
p.S179R
c.535A>C
1 paper
NM_000306.4
p.L194insFs
c.580_581insT
11 papers
NM_000306.4
p.L194Q
c.581T>A
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