Varaico: Literature-Extracted Genetic Variants

Gene:POU4F1
Variant:p.G283_G290del8

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
Selected Variant
2 papers
NM_006237.4
p.G283_G290del8
c.847_869del24
Surrounding Variants
1 paper
NM_006237.4
p.G283G
c.849C>T
1 paper
NM_006237.4
p.P299L
c.896C>T
3 papers
NM_006237.4
p.F271_K281del11
c.811_842del33
2 papers
NM_006237.4
p.Q306R
c.917A>G
1 paper
NM_006237.4
p.E313K
c.937G>A
1 paper
NM_006237.4
p.L315P
c.944T>C
1 paper
NM_006237.4
p.T316M
c.947C>T
1 paper
NM_006237.4
p.I323F
c.967A>T
1 paper
NM_006237.4
p.A324_K326del3
c.970_977del9
1 paper
NM_006237.4
p.E337*
c.1009G>T
1 paper
NM_006237.4
p.S244T
c.730T>A
1 paper
NM_006237.4
p.A243E
c.728C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."