Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.K82delFs

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.K82delFs
c.245delA
Surrounding Variants
1 paper
NM_000307.5
p.P83insFs
c.249dupC
2 papers
NM_000307.5
p.P83delFs
c.249delC
3 papers
NM_000307.5
p.Q79Q
c.237G>A
1 paper
NM_000307.5
p.G84fs
c.250_251fs
8 papers
NM_000307.5
p.Q79*
c.235C>T
1 paper
NM_000307.5
p.G84E
c.251G>A
12 papers
NM_000307.5
p.Q79delFs
c.235delC
3 papers
NM_000307.5
p.R85fs
c.253_254fs
3 papers
NM_000307.5
p.Q78*
c.232C>T
1 paper
NM_000307.5
p.D87N
c.259G>A
1 paper
NM_000307.5
p.L88V
c.262C>G
1 paper
NM_000307.5
p.P75S
c.223C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."