Varaico: Literature-Extracted Genetic Variants

Gene:POU4F2
Variant:p.G56ins1

POU4F2

79 papers

RefSeq Summary

The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is a...

Pfam Domains

Pouaa 253–327UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 346–402UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 4 homeobox 2

HGNC Previous Symbol

BRN3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004575.3
p.G56ins1
c.166_167insGGC
Surrounding Variants
9 papers
NM_004575.3
p.G66_G67ins0
c.198_200dupCGG
1 paper
NM_004575.3
p.G63_G67ins1
c.189_200dup12
2 papers
NM_004575.3
p.G56_G58del3
c.166_173del9
1 paper
NM_004575.3
p.G56_G59del4
c.166_176del12
1 paper
NM_004575.3
p.G56_G60del0
c.166_180del15
1 paper
NM_004575.3
p.G60_G67del0
c.180_200del21
1 paper
NM_004575.3
p.G56G
c.168C>T
1 paper
NM_004575.3
p.A53_G54ins1
c.159_160insTGG
1 paper
NM_004575.3
p.A53ins1
c.158_159insTGG
1 paper
NM_004575.3
p.G58G
c.174C>T
1 paper
NM_004575.3
p.G64G
c.192C>A
1 paper
NM_004575.3
p.G64_G65ins4
c.192_193ins12
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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."