Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.V321G

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
4 papers
NM_000307.5
p.V321G
c.962T>G
Surrounding Variants
1 paper
NM_000307.5
p.V321insFs
c.961_962insC
1 paper
NM_000307.5
p.V322M
c.964G>A
1 paper
NM_000307.5
p.V322insFs
c.965_966insA
3 papers
NM_000307.5
p.E320*
c.958G>T
14 papers
NM_000307.5
p.R323G
c.967C>G
2 papers
NM_000307.5
p.R323H
c.968G>A
1 paper
NM_000307.5
p.R323P
c.968G>C
1 paper
NM_000307.5
p.W325_R329delFs
c.973_985del13
6 papers
NM_000307.5
p.V324D
c.971T>A
6 papers
NM_000307.5
p.W325delFs
c.973delT
1 paper
NM_000307.5
p.E318K
c.952G>A
3 papers
NM_000307.5
p.L317F
c.951G>C
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