Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.P164L

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.P164L
c.491C>T
Surrounding Variants
1 paper
NM_000307.5
p.P164S
c.490C>T
3 papers
NM_000307.5
p.P164fs
c.490_491fs
2 papers
NM_000307.5
p.P164delFs
c.491delC
1 paper
NM_000307.5
p.L162P
c.485T>C
10 papers
NM_000307.5
p.R167*
c.499C>T
1 paper
NM_000307.5
p.E168delFs
c.504delG
3 papers
NM_000307.5
p.Q160*
c.478C>T
1 paper
NM_000307.5
p.P169L
c.506C>T
1 paper
NM_000307.5
p.P169_P170insFs
c.507_508ins4
1 paper
NM_000307.5
p.P170Q
c.509C>A
1 paper
NM_000307.5
p.P170R
c.509C>G
1 paper
NM_000307.5
p.E174G
c.521A>G
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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."