Varaico: Literature-Extracted Genetic Variants

Gene:POU3F2
Variant:p.D424_Y426del3

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
Selected Variant
2 papers
NM_005604.4
p.D424_Y426del3
c.1270_1277del9
Surrounding Variants
1 paper
NM_005604.4
p.Y426Y
c.1278C>T
1 paper
NM_005604.4
p.P420T
c.1258C>A
1 paper
NM_005604.4
p.M412T
c.1235T>C
1 paper
NM_005604.4
p.Q407R
c.1220A>G
1 paper
NM_005604.4
p.P441_Q443del3
c.1321_1328del9
3 papers
NM_005604.4
p.L391F
c.1173A>C
3 papers
NM_005604.4
p.L391F
c.1173A>T
1 paper
NM_005604.4
p.S337L
c.1010C>T
1 paper
NM_005604.4
p.P326S
c.976C>T
1 paper
NM_005604.4
p.L314Q
c.941T>A
1 paper
NM_005604.4
p.L314P
c.941T>C
1 paper
NM_005604.4
p.G292del1
c.874_875delGGG
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