Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.L289F

POU4F3

133 papers

RefSeq Summary

This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protei...

Pfam Domains

Pouaa 182–256UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 275–331UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 4 homeobox 3

HGNC Previous Symbols

DFNA15; DFNA52; DFNA42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
23 papers
NM_002700.3
p.L289F
c.865C>T
Surrounding Variants
1 paper
NM_002700.3
p.S288*
c.863C>A
1 paper
NM_002700.3
p.S288*
c.863C>G
1 paper
NM_002700.3
p.E290Q
c.868G>C
1 paper
NM_002700.3
p.E285V
c.854A>T
1 paper
NM_002700.3
p.E285K
c.853G>A
4 papers
NM_002700.3
p.F293L
c.877T>C
4 papers
NM_002700.3
p.F293L
c.879C>A
4 papers
NM_002700.3
p.F293L
c.879C>G
1 paper
NM_002700.3
p.P284R
c.851C>G
2 papers
NM_002700.3
p.A283V
c.848C>T
5 papers
NM_002700.3
p.I295_P297delFs
c.884_891del8
2 papers
NM_002700.3
p.I295fs
c.883_884fs
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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."