Varaico: Literature-Extracted Genetic Variants

Gene:POU4F2
Variant:p.L200M

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.L200M
c.598C>A
Surrounding Variants
1 paper
NM_004575.3
p.A204V
c.611C>T
1 paper
NM_004575.3
p.L192L
c.576G>A
1 paper
NM_004575.3
p.L192_L193ins12
c.574_578ins36
1 paper
NM_004575.3
p.P216L
c.647C>T
1 paper
NM_004575.3
p.A219A
c.657G>A
1 paper
NM_004575.3
p.H178Y
c.532C>T
3 papers
NM_004575.3
p.H182_Q183del1
c.546_548delCCA
2 papers
NM_004575.3
p.H174_H175insGGC
c.520_524ins9
1 paper
NM_004575.3
p.H173Y
c.517C>T
1 paper
NM_004575.3
p.H229L
c.686A>T
1 paper
NM_004575.3
p.A166_L167insGGC
c.496_500ins9
1 paper
NM_004575.3
p.A166_H174del9
c.496_521del27
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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."