Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.E187insFs

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.E187insFs
c.561dupG
Surrounding Variants
5 papers
NM_000307.5
p.E187*
c.559G>T
1 paper
NM_000307.5
p.T188S
c.562A>T
1 paper
NM_000307.5
p.S191fs
c.571_572fs
1 paper
NM_000307.5
p.E193insFs
c.578dupA
2 papers
NM_000307.5
p.Q181*
c.541C>T
5 papers
NM_000307.5
p.C180*
c.540C>A
1 paper
NM_000307.5
p.C180C
c.540C>T
4 papers
NM_000307.5
p.S177*
c.530C>A
1 paper
NM_000307.5
p.A198P
c.592G>C
1 paper
NM_000307.5
p.K199E
c.595A>G
1 paper
NM_000307.5
p.G176_S191del16
c.526_572del48
1 paper
NM_000307.5
p.Q200_F201delFs
c.598_602del5
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."