Varaico: Literature-Extracted Genetic Variants

Gene:POU4F1

POU4F1

58 papers

RefSeq Summary

This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous sy...

Pfam Domains

Pouaa 263–337UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 356–412UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 4 homeobox 1

HGNC Previous Symbol

BRN3A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
6 papers
NM_006237.4
p.H108_Q109del1
c.324_326delTGG
3 papers
NM_006237.4
p.T91_S94delFs
c.271_281del11
3 papers
NM_006237.4
p.F271_K281del11
c.811_842del33
2 papers
NM_006237.4
p.T53_L54insFs
c.158_161dup4
2 papers
NM_006237.4
p.T95_P97delFs
c.283_290del8
2 papers
NM_006237.4
p.G283_G290del8
c.847_869del24
2 papers
NM_006237.4
p.Q306R
c.917A>G
1 paper
NM_006237.4
p.P15S
c.43C>T
1 paper
NM_006237.4
p.P15P
c.45C>T
1 paper
NM_006237.4
p.E19*
c.55G>T
1 paper
NM_006237.4
p.I32N
c.95T>A
1 paper
NM_006237.4
p.C36_L37delFs
c.108_109delGG
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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."