Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.N328T

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
7 papers
NM_000307.5
p.N328T
c.983A>C
Surrounding Variants
1 paper
NM_000307.5
p.N328S
c.983A>G
1 paper
NM_000307.5
p.N328D
c.982A>G
1 paper
NM_000307.5
p.N328K
c.984T>A
1 paper
NM_000307.5
p.N328K
c.984T>G
12 papers
NM_000307.5
p.R329G
c.985C>G
1 paper
NM_000307.5
p.R329*
c.985C>T
3 papers
NM_000307.5
p.C327*
c.981T>A
1 paper
NM_000307.5
p.R329Q
c.986G>A
14 papers
NM_000307.5
p.R329P
c.986G>C
2 papers
NM_000307.5
p.C327S
c.979T>A
4 papers
NM_000307.5
p.R330K
c.989G>A
2 papers
NM_000307.5
p.F326S
c.977T>C
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