Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.I285fs

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.I285fs
c.853_854fs
Surrounding Variants
7 papers
NM_000307.5
p.I285fs
c.853_854fs
6 papers
NM_000307.5
p.I285delFs
c.853_854delAT
6 papers
NM_000307.5
p.I285N
c.854T>A
2 papers
NM_000307.5
p.E286fs
c.856_857fs
3 papers
NM_000307.5
p.E286*
c.856G>T
2 papers
NM_000307.5
p.S284delFs
c.852delC
2 papers
NM_000307.5
p.S288_V289delFs
c.862_865del4
1 paper
NM_000307.5
p.T283A
c.847A>G
7 papers
NM_000307.5
p.R282Q
c.845G>A
2 papers
NM_000307.5
p.R282L
c.845G>T
1 paper
NM_000307.5
p.S288fs
c.862_863fs
3 papers
NM_000307.5
p.S288C
c.862A>T
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