Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.L293Q

POU3F4

225 papers

RefSeq Summary

This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epi...

Pfam Domains

Pouaa 189–260UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 279–335UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 3 homeobox 4

HGNC Previous Symbol

DFN3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000307.5
p.L293Q
c.878T>A
Surrounding Variants
2 papers
NM_000307.5
p.L293V
c.877C>G
1 paper
NM_000307.5
p.L293L
c.877C>T
2 papers
NM_000307.5
p.E294fs
c.880_881fs
4 papers
NM_000307.5
p.E294G
c.881A>G
1 paper
NM_000307.5
p.H296insFs
c.887dupA
5 papers
NM_000307.5
p.K290N
c.870G>C
5 papers
NM_000307.5
p.K290N
c.870G>T
1 paper
NM_000307.5
p.F297L
c.889T>C
1 paper
NM_000307.5
p.F297L
c.891C>A
1 paper
NM_000307.5
p.F297L
c.891C>G
3 papers
NM_000307.5
p.V289fs
c.865_866fs
1 paper
NM_000307.5
p.V289fs
c.865_866fs
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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."