Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.T79delFs

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.T79delFs
c.235delA
Surrounding Variants
1 paper
NM_002700.3
p.K75delFs
c.225delG
1 paper
NM_002700.3
p.K75fs
c.223_224fs
1 paper
NM_002700.3
p.H72D
c.214C>G
1 paper
NM_002700.3
p.K70*
c.208A>T
1 paper
NM_002700.3
p.G69S
c.205G>A
5 papers
NM_002700.3
p.D64V
c.191A>T
1 paper
NM_002700.3
p.T94_V95ins4
c.280_284ins12
1 paper
NM_002700.3
p.T94delFs
c.281delC
1 paper
NM_002700.3
p.T94I
c.281C>T
1 paper
NM_002700.3
p.A62V
c.185C>T
1 paper
NM_002700.3
p.A62fs
c.184_185fs
2 papers
NM_002700.3
p.V95V
c.285G>C
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