Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.E318K

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.E318K
c.952G>A
Surrounding Variants
3 papers
NM_000307.5
p.L317F
c.951G>C
3 papers
NM_000307.5
p.L317F
c.951G>T
2 papers
NM_000307.5
p.L317*
c.950T>A
11 papers
NM_000307.5
p.L317W
c.950T>G
1 paper
NM_000307.5
p.L317fs
c.949_950fs
6 papers
NM_000307.5
p.L317fs
c.949_950fs
11 papers
NM_000307.5
p.L317insFs
c.950dupT
2 papers
NM_000307.5
p.Q316*
c.946C>T
3 papers
NM_000307.5
p.E320*
c.958G>T
1 paper
NM_000307.5
p.V321insFs
c.961_962insC
4 papers
NM_000307.5
p.V321G
c.962T>G
1 paper
NM_000307.5
p.S314fs
c.940_941fs
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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."