Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.P303H

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
5 papers
NM_000307.5
p.P303H
c.908C>A
Surrounding Variants
10 papers
NM_000307.5
p.P303S
c.907C>T
1 paper
NM_000307.5
p.K302fs
c.904_905fs
1 paper
NM_000307.5
p.K302fs
c.904_905fs
2 papers
NM_000307.5
p.P301_A304Fs
c.903_912delinsTGCCAFs
8 papers
NM_000307.5
p.P301L
c.902C>T
3 papers
NM_000307.5
p.P301S
c.901C>T
5 papers
NM_000307.5
p.Q306*
c.916C>T
2 papers
NM_000307.5
p.C300*
c.900T>A
1 paper
NM_000307.5
p.K299fs
c.895_896fs
1 paper
NM_000307.5
p.K299fs
c.895_896fs
1 paper
NM_000307.5
p.I308fs
c.922_923fs
3 papers
NM_000307.5
p.K299delFs
c.895delA
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