Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.P299S

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
1 paper
NM_002700.3
p.P299S
c.895C>T
Surrounding Variants
6 papers
NM_002700.3
p.P299L
c.896C>T
1 paper
NM_002700.3
p.Q296insFs
c.887dupA
2 papers
NM_002700.3
p.Q296*
c.886C>T
1 paper
NM_002700.3
p.E302Q
c.904G>C
2 papers
NM_002700.3
p.I295fs
c.883_884fs
6 papers
NM_002700.3
p.I295fs
c.883_884fs
5 papers
NM_002700.3
p.I295_P297delFs
c.884_891del8
1 paper
NM_002700.3
p.K303N
c.909G>T
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.A305T
c.913G>A
4 papers
NM_002700.3
p.F293L
c.877T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."