Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.H147delFs

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
2 papers
NM_000307.5
p.H147delFs
c.441delC
Surrounding Variants
3 papers
NM_000307.5
p.H147fs
c.439_440fs
2 papers
NM_000307.5
p.G148R
c.442G>A
2 papers
NM_000307.5
p.G148R
c.442G>C
1 paper
NM_000307.5
p.G149V
c.446G>T
1 paper
NM_000307.5
p.G143D
c.428G>A
2 papers
NM_000307.5
p.P153delFs
c.458delC
2 papers
NM_000307.5
p.P153fs
c.457_458fs
1 paper
NM_000307.5
p.V141Fs
c.422delinsTAFs
2 papers
NM_000307.5
p.V141delins
c.421_422delinsTA
1 paper
NM_000307.5
p.P137fs
c.409_410fs
1 paper
NM_000307.5
p.P137delFs
c.410delC
8 papers
NM_000307.5
p.Q136*
c.406C>T
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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."