Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.D63Y

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.D63Y
c.187G>T
Surrounding Variants
2 papers
NM_000307.5
p.G64E
c.191G>A
1 paper
NM_000307.5
p.G64A
c.191G>C
2 papers
NM_000307.5
p.G65S
c.193G>A
1 paper
NM_000307.5
p.G65D
c.194G>A
1 paper
NM_000307.5
p.P66P
c.198A>T
1 paper
NM_000307.5
p.T59fs
c.175_176fs
1 paper
NM_000307.5
p.T59_G64delFs
c.176_191del16
5 papers
NM_000307.5
p.W67*
c.200G>A
1 paper
NM_000307.5
p.T59insFs
c.175dupA
1 paper
NM_000307.5
p.V58V
c.174G>T
4 papers
NM_000307.5
p.W67*
c.201G>A
6 papers
NM_000307.5
p.W57*
c.171G>A
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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."