Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.P111delFs

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.P111delFs
c.331delC
Surrounding Variants
1 paper
NM_000307.5
p.H110delFs
c.329delA
1 paper
NM_000307.5
p.N112delFs
c.334_335delAA
1 paper
NM_000307.5
p.A113S
c.337G>T
1 paper
NM_000307.5
p.A113V
c.338C>T
4 papers
NM_000307.5
p.A116insFs
c.346dupG
9 papers
NM_000307.5
p.A116delFs
c.346delG
8 papers
NM_000307.5
p.W114*
c.341G>A
7 papers
NM_000307.5
p.W114*
c.342G>A
3 papers
NM_000307.5
p.A116_S117insFs
c.346_350dup5
4 papers
NM_000307.5
p.S105_N109delFs
c.313_326del14
9 papers
NM_000307.5
p.A116fs
c.346_347fs
7 papers
NM_000307.5
p.A116fs
c.346_347fs
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