Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.H148Q

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.H148Q
c.444C>A
Surrounding Variants
1 paper
NM_002700.3
p.H148Q
c.444C>G
2 papers
NM_002700.3
p.H148Y
c.442C>T
5 papers
NM_002700.3
p.Q143*
c.427C>T
3 papers
NM_002700.3
p.Q157*
c.469C>T
1 paper
NM_002700.3
p.S138*
c.413C>A
1 paper
NM_002700.3
p.G160S
c.478G>A
1 paper
NM_002700.3
p.E136*
c.406G>T
1 paper
NM_002700.3
p.P135_E136insFs
c.405_406ins7
1 paper
NM_002700.3
p.A134V
c.401C>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.S130fs
c.388_389fs
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