Varaico: Literature-Extracted Genetic Variants

Gene:POU4F2
Variant:p.R264H

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.R264H
c.791G>A
Surrounding Variants
1 paper
NM_004575.3
p.R264S
c.790C>A
1 paper
NM_004575.3
p.R269L
c.806G>T
1 paper
NM_004575.3
p.D257E
c.771C>A
1 paper
NM_004575.3
p.D257E
c.771C>G
2 papers
NM_004575.3
p.K271R
c.812A>G
1 paper
NM_004575.3
p.V274M
c.820G>A
1 paper
NM_004575.3
p.Q276K
c.826C>A
2 papers
NM_004575.3
p.D252H
c.754G>C
1 paper
NM_004575.3
p.D250Y
c.748G>T
1 paper
NM_004575.3
p.A284T
c.850G>A
1 paper
NM_004575.3
p.S243L
c.728C>T
1 paper
NM_004575.3
p.G240fs
c.718_719fs
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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."