Varaico: Literature-Extracted Genetic Variants

Gene:POU4F2
Variant:p.A140D

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.A140D
c.419C>A
Surrounding Variants
2 papers
NM_004575.3
p.A140T
c.418G>A
2 papers
NM_004575.3
p.D139E
c.417C>A
2 papers
NM_004575.3
p.D139E
c.417C>G
1 paper
NM_004575.3
p.P135L
c.404C>T
1 paper
NM_004575.3
p.K124N
c.372G>C
1 paper
NM_004575.3
p.K124N
c.372G>T
1 paper
NM_004575.3
p.S156T
c.466T>A
1 paper
NM_004575.3
p.S158_V159insTGG
c.472_476ins9
5 papers
NM_004575.3
p.S165_A166insGGC
c.493_497ins9
1 paper
NM_004575.3
p.A166_H174del9
c.496_521del27
1 paper
NM_004575.3
p.A166_H177del12
c.496_530del36
1 paper
NM_004575.3
p.A166_H180del15
c.496_539del45
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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."