Varaico: Literature-Extracted Genetic Variants

Gene:POU4F2
Variant:p.R347H

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.R347H
c.1040G>A
Surrounding Variants
1 paper
NM_004575.3
p.R347L
c.1040G>T
1 paper
NM_004575.3
p.T350M
c.1049C>T
1 paper
NM_004575.3
p.E327K
c.979G>A
1 paper
NM_004575.3
p.R369Q
c.1106G>A
1 paper
NM_004575.3
p.R369P
c.1106G>C
1 paper
NM_004575.3
p.A379T
c.1135G>A
1 paper
NM_004575.3
p.V388M
c.1162G>A
1 paper
NM_004575.3
p.V388L
c.1162G>C
1 paper
NM_004575.3
p.V388L
c.1162G>T
1 paper
NM_004575.3
p.R301S
c.903G>C
1 paper
NM_004575.3
p.R301S
c.903G>T
1 paper
NM_004575.3
p.A284T
c.850G>A
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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."