Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.L223P

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
17 papers
NM_002700.3
p.L223P
c.668T>C
Surrounding Variants
4 papers
NM_002700.3
p.S222L
c.665C>T
4 papers
NM_002700.3
p.G221fs
c.661_662fs
5 papers
NM_002700.3
p.G221fs
c.661_662fs
7 papers
NM_002700.3
p.G221_Q225delFs
c.662_675del14
4 papers
NM_002700.3
p.T227fs
c.679_680fs
5 papers
NM_002700.3
p.T227delFs
c.680delC
1 paper
NM_002700.3
p.C229F
c.686G>T
1 paper
NM_002700.3
p.I217insFs
c.651dupC
1 paper
NM_002700.3
p.I217insFs
c.649_650insC
1 paper
NM_002700.3
p.R230S
c.690G>C
1 paper
NM_002700.3
p.R230S
c.690G>T
11 papers
NM_002700.3
p.E232K
c.694G>A
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