Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.T230I

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
10 papers
NM_000307.5
p.T230I
c.689C>T
Surrounding Variants
1 paper
NM_000307.5
p.T230insFs
c.688dupA
14 papers
NM_000307.5
p.Q229R
c.686A>G
2 papers
NM_000307.5
p.T231I
c.692C>T
12 papers
NM_000307.5
p.S228L
c.683C>T
1 paper
NM_000307.5
p.I232T
c.695T>C
1 paper
NM_000307.5
p.R234_F235ins0
c.700_705dup6
5 papers
NM_000307.5
p.C233*
c.699C>A
1 paper
NM_000307.5
p.R234W
c.700A>T
2 papers
NM_000307.5
p.E236K
c.706G>A
6 papers
NM_000307.5
p.E236A
c.707A>C
6 papers
NM_000307.5
p.E236D
c.708G>C
6 papers
NM_000307.5
p.E236D
c.708G>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."