Varaico: Literature-Extracted Genetic Variants

Gene:POU3F2

POU3F2

77 papers

RefSeq Summary

This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing horm...

Pfam Domains

Pouaa 265–336UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 355–411UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 3 homeobox 2

HGNC Previous Symbol

OTF7

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
4 papers
NM_005604.4
p.Q147_Q148del1
c.441_443delGCA
3 papers
NM_005604.4
p.Q149del1
c.445_446delCAG
3 papers
NM_005604.4
p.L391F
c.1173A>C
3 papers
NM_005604.4
p.L391F
c.1173A>T
2 papers
NM_005604.4
p.L118L
c.354G>T
2 papers
NM_005604.4
p.E271V
c.812A>T
2 papers
NM_005604.4
p.D424_Y426del3
c.1270_1277del9
1 paper
NM_005604.4
p.A4T
c.10G>A
1 paper
NM_005604.4
p.N7H
c.19A>C
1 paper
NM_005604.4
p.N7D
c.19A>G
1 paper
NM_005604.4
p.N7Y
c.19A>T
1 paper
NM_005604.4
p.N7T
c.20A>C
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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."