Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.A189fs

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
2 papers
NM_002700.3
p.A189fs
c.565_566fs
Surrounding Variants
1 paper
NM_002700.3
p.A189fs
c.565_566fs
1 paper
NM_002700.3
p.A189S
c.565G>T
2 papers
NM_002700.3
p.E188insFs
c.564dupA
1 paper
NM_002700.3
p.F190L
c.568T>C
1 paper
NM_002700.3
p.F190L
c.570C>A
1 paper
NM_002700.3
p.F190L
c.570C>G
1 paper
NM_002700.3
p.L187V
c.559C>G
1 paper
NM_002700.3
p.A191P
c.571G>C
1 paper
NM_002700.3
p.A191_E192delFs
c.573_576del4
5 papers
NM_002700.3
p.E192*
c.574G>T
2 papers
NM_002700.3
p.E186*
c.556G>T
1 paper
NM_002700.3
p.R193insFs
c.578dupG
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