Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.R276_K277insFs

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.R276_K277insFs
c.828_829insT
Surrounding Variants
1 paper
NM_002700.3
p.R278C
c.832C>T
1 paper
NM_002700.3
p.R274P
c.821G>C
1 paper
NM_002700.3
p.R274W
c.820C>T
1 paper
NM_002700.3
p.S280_I281insFs
c.840_841insAG
5 papers
NM_002700.3
p.I281V
c.841A>G
2 papers
NM_002700.3
p.I281N
c.842T>A
1 paper
NM_002700.3
p.G271C
c.811G>T
2 papers
NM_002700.3
p.A283V
c.848C>T
1 paper
NM_002700.3
p.P284R
c.851C>G
1 paper
NM_002700.3
p.E285K
c.853G>A
1 paper
NM_002700.3
p.E285V
c.854A>T
1 paper
NM_002700.3
p.S288*
c.863C>A
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