Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.S241S

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.S241S
c.723T>G
Surrounding Variants
1 paper
NM_000306.4
p.P239_S240delFs
c.716_720del5
3 papers
NM_000306.4
p.Q242R
c.725A>G
3 papers
NM_000306.4
p.Q242delFs
c.725_726delTT
1 paper
NM_000306.4
p.S240P
c.718T>C
1 paper
NM_000306.4
p.E243A
c.728A>C
3 papers
NM_000306.4
p.I244S
c.731T>G
34 papers
NM_000306.4
p.P239S
c.715C>T
1 paper
NM_000306.4
p.N237insFs
c.711dupT
1 paper
NM_000306.4
p.M245I
c.735G>A
1 paper
NM_000306.4
p.R246delFs
c.738delC
8 papers
NM_000306.4
p.F233L
c.699T>G
8 papers
NM_000306.4
p.F233L
c.699T>A
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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."