Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.Q129*

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.Q129*
c.385C>T
Surrounding Variants
9 papers
NM_000307.5
p.G128fs
c.382_383fs
1 paper
NM_000307.5
p.G128fs
c.382_383fs
7 papers
NM_000307.5
p.G128delFs
c.383delG
1 paper
NM_000307.5
p.S126*
c.377C>A
1 paper
NM_000307.5
p.S126*
c.377C>G
1 paper
NM_000307.5
p.V133V
c.399G>A
1 paper
NM_000307.5
p.I124T
c.371T>C
4 papers
NM_000307.5
p.Y134_S135insFs
c.401_404dup4
1 paper
NM_000307.5
p.Y134insFs
c.401_402ins4
1 paper
NM_000307.5
p.Y134*
c.402C>A
1 paper
NM_000307.5
p.Y134*
c.402C>G
1 paper
NM_000307.5
p.S135insFs
c.404dupC
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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."