Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.L240L

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.L240L
c.718C>T
Surrounding Variants
2 papers
NM_000307.5
p.Q239*
c.715C>T
7 papers
NM_000307.5
p.K243insFs
c.727_728insA
1 paper
NM_000307.5
p.K243R
c.728A>G
6 papers
NM_000307.5
p.E236D
c.708G>C
6 papers
NM_000307.5
p.E236D
c.708G>T
6 papers
NM_000307.5
p.E236A
c.707A>C
4 papers
NM_000307.5
p.N244fs
c.730_731fs
2 papers
NM_000307.5
p.E236K
c.706G>A
1 paper
NM_000307.5
p.R234W
c.700A>T
5 papers
NM_000307.5
p.C233*
c.699C>A
1 paper
NM_000307.5
p.R234_F235ins0
c.700_705dup6
1 paper
NM_000307.5
p.I232T
c.695T>C
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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."