Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.A158P

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
34 papers
NM_000306.4
p.A158P
c.472G>C
Surrounding Variants
3 papers
NM_000306.4
p.A158del1
c.472_473delTGC
5 papers
NM_000306.4
p.A156insFs
c.467_468insT
1 paper
NM_000306.4
p.H161Y
c.481C>T
1 paper
NM_000306.4
p.Q150_V153del4
c.448_458del12
1 paper
NM_000306.4
p.V153F
c.457G>T
1 paper
NM_000306.4
p.Q150_T151del2
c.448_452del6
1 paper
NM_000306.4
p.E164V
c.491A>T
1 paper
NM_000306.4
p.S166C
c.496A>T
2 papers
NM_000306.4
p.Q167*
c.499C>T
9 papers
NM_000306.4
p.Q167K
c.499C>A
3 papers
NM_001122757.3
p.T194insFs
c.580_581insT
NM_000306.4
p.T168insFs
c.502_503insT
1 paper
NM_001122757.3
p.T194fs
c.580_581fs
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