Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.Y42*

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.Y42*
c.126C>A
Surrounding Variants
1 paper
NM_000307.5
p.Y42*
c.126C>G
1 paper
NM_000307.5
p.Q44delFs
c.130delC
1 paper
NM_000307.5
p.Q44*
c.130C>T
1 paper
NM_000307.5
p.D41delFs
c.122delA
1 paper
NM_000307.5
p.Q44Q
c.132G>A
1 paper
NM_000307.5
p.G45fs
c.133_134fs
2 papers
NM_000307.5
p.V46V
c.138T>C
1 paper
NM_000307.5
p.P47S
c.139C>T
1 paper
NM_000307.5
p.L37insFs
c.109dupC
1 paper
NM_000307.5
p.Q35fs
c.103_104fs
1 paper
NM_000307.5
p.P34_Q35insFs
c.101_104dup4
1 paper
NM_000307.5
p.N33delFs
c.99delC
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."