Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.N121delFs

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.N121delFs
c.363delC
Surrounding Variants
1 paper
NM_000307.5
p.I124T
c.371T>C
1 paper
NM_000307.5
p.S117insFs
c.350dupG
3 papers
NM_000307.5
p.S117fs
c.349_350fs
1 paper
NM_000307.5
p.S126*
c.377C>A
1 paper
NM_000307.5
p.S126*
c.377C>G
9 papers
NM_000307.5
p.A116fs
c.346_347fs
7 papers
NM_000307.5
p.A116fs
c.346_347fs
3 papers
NM_000307.5
p.A116_S117insFs
c.346_350dup5
7 papers
NM_000307.5
p.G128delFs
c.383delG
7 papers
NM_000307.5
p.W114*
c.342G>A
9 papers
NM_000307.5
p.G128fs
c.382_383fs
1 paper
NM_000307.5
p.G128fs
c.382_383fs
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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."