Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.R326K

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
10 papers
NM_002700.3
p.R326K
c.977G>A
Surrounding Variants
7 papers
NM_002700.3
p.R326*
c.976A>T
1 paper
NM_002700.3
p.Q327*
c.979C>T
1 paper
NM_002700.3
p.Q325*
c.973C>T
7 papers
NM_002700.3
p.K328E
c.982A>G
1 paper
NM_002700.3
p.N324D
c.970A>G
1 paper
NM_002700.3
p.F322L
c.966C>A
1 paper
NM_002700.3
p.F322L
c.966C>G
1 paper
NM_002700.3
p.F322S
c.965T>C
1 paper
NM_002700.3
p.F322insFs
c.965_966insA
1 paper
NM_002700.3
p.F322L
c.964T>C
1 paper
NM_002700.3
p.W321C
c.963G>C
1 paper
NM_002700.3
p.W321C
c.963G>T
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