Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.E254A

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.E254A
c.761A>C
Surrounding Variants
1 paper
NM_000306.4
p.E256del1
c.766_767delTTC
2 papers
NM_000306.4
p.E249del1
c.745_746delTTC
38 papers
NM_000306.4
p.E250*
c.748G>T
1 paper
NM_000306.4
p.E250insFs
c.748_749insA
13 papers
NM_000306.4
p.E249delFs
c.747delT
1 paper
NM_001122757.3
p.V284insFs
c.851dupT
1 paper
NM_001122757.3
p.R285fs
c.853_854fs
5 papers
NM_000306.4
p.V260insFs
c.778_779insA
1 paper
NM_000306.4
p.W261*
c.782G>A
22 papers
NM_000306.4
p.W261C
c.783G>T
22 papers
NM_000306.4
p.W261C
c.783G>C
1 paper
NM_000306.4
p.R246delFs
c.738delC
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