Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.I308T

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
4 papers
NM_000307.5
p.I308T
c.923T>C
Surrounding Variants
10 papers
NM_000307.5
p.I308N
c.923T>A
4 papers
NM_000307.5
p.S309_S310del1
c.927_929delCTC
1 paper
NM_000307.5
p.I308fs
c.922_923fs
9 papers
NM_000307.5
p.S309P
c.925T>C
12 papers
NM_000307.5
p.S310del1
c.928_929delTCG
1 paper
NM_000307.5
p.S310*
c.929C>A
5 papers
NM_000307.5
p.Q306*
c.916C>T
3 papers
NM_000307.5
p.A312P
c.934G>C
1 paper
NM_000307.5
p.D313_S314insFs
c.937_940dup4
13 papers
NM_000307.5
p.A312V
c.935C>T
3 papers
NM_000307.5
p.D313_F326del14
c.937_977del42
5 papers
NM_000307.5
p.P303H
c.908C>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."