Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.G160S

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.G160S
c.478G>A
Surrounding Variants
3 papers
NM_002700.3
p.Q157*
c.469C>T
10 papers
NM_002700.3
p.P164R
c.491C>G
1 paper
NM_002700.3
p.P164P
c.492G>A
1 paper
NM_002700.3
p.A168delFs
c.502delG
1 paper
NM_002700.3
p.A168fs
c.502_503fs
1 paper
NM_002700.3
p.P169_H170insFs
c.507_508ins4
1 paper
NM_002700.3
p.H148Q
c.444C>A
1 paper
NM_002700.3
p.H148Q
c.444C>G
2 papers
NM_002700.3
p.H148Y
c.442C>T
1 paper
NM_002700.3
p.C176*
c.528C>A
5 papers
NM_002700.3
p.Q143*
c.427C>T
1 paper
NM_002700.3
p.D179D
c.537C>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."