Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.H100delFs

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.H100delFs
c.299_300delAC
Surrounding Variants
10 papers
NM_000307.5
p.S98*
c.293C>A
1 paper
NM_000307.5
p.H100fs
c.298_299fs
1 paper
NM_000307.5
p.R97_S98insFs
c.291_292insA
1 paper
NM_000307.5
p.H95Y
c.283C>T
1 paper
NM_000307.5
p.H104N
c.310C>A
4 papers
NM_000307.5
p.S105_N109delFs
c.313_326del14
1 paper
NM_000307.5
p.A92T
c.274G>A
5 papers
NM_000307.5
p.L90P
c.269T>C
1 paper
NM_000307.5
p.L88V
c.262C>G
1 paper
NM_000307.5
p.H110delFs
c.329delA
1 paper
NM_000307.5
p.P111delFs
c.331delC
1 paper
NM_000307.5
p.D87N
c.259G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."