Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.A308G

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.A308G
c.923C>G
Surrounding Variants
6 papers
NM_002700.3
p.L311P
c.932T>C
1 paper
NM_002700.3
p.A305T
c.913G>A
1 paper
NM_002700.3
p.L313_R326del14
c.937_977del42
1 paper
NM_002700.3
p.K303N
c.909G>T
1 paper
NM_002700.3
p.K314insFs
c.940dupA
1 paper
NM_002700.3
p.E302Q
c.904G>C
1 paper
NM_002700.3
p.V317insFs
c.950dupT
6 papers
NM_002700.3
p.P299L
c.896C>T
1 paper
NM_002700.3
p.V318delFs
c.952delG
1 paper
NM_002700.3
p.P299S
c.895C>T
4 papers
NM_002700.3
p.V318M
c.952G>A
1 paper
NM_002700.3
p.V318E
c.953T>A
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