Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.C77W

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.C77W
c.231T>G
Surrounding Variants
1 paper
NM_000306.4
p.C77C
c.231T>C
1 paper
NM_000306.4
p.C77*
c.231T>A
2 papers
NM_000306.4
p.L78L
c.234T>C
8 papers
NM_000306.4
p.P76L
c.227C>T
1 paper
NM_000306.4
p.P76A
c.226C>G
2 papers
NM_000306.4
p.Y79Y
c.237T>C
2 papers
NM_000306.4
p.T75N
c.224C>A
3 papers
NM_000306.4
p.T75A
c.223A>G
1 paper
NM_000306.4
p.L74F
c.222A>T
1 paper
NM_000306.4
p.L74L
c.222A>G
1 paper
NM_000306.4
p.L74F
c.222A>C
1 paper
NM_000306.4
p.L74_Y79delFs
c.221_236del16
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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."