Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.E256A

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.E256A
c.767A>C
Surrounding Variants
1 paper
NM_002700.3
p.E254*
c.760G>T
1 paper
NM_002700.3
p.L252L
c.754T>C
1 paper
NM_002700.3
p.W251delFs
c.753delG
1 paper
NM_002700.3
p.W251fs
c.751_752fs
1 paper
NM_002700.3
p.A250V
c.749C>T
1 paper
NM_002700.3
p.Q249P
c.746A>C
1 paper
NM_002700.3
p.Q249*
c.745C>T
4 papers
NM_002700.3
p.L248P
c.743T>C
1 paper
NM_002700.3
p.P246T
c.736C>A
1 paper
NM_002700.3
p.L244V
c.730C>G
1 paper
NM_002700.3
p.G271C
c.811G>T
1 paper
NM_002700.3
p.N240S
c.719A>G
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