Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.L222_Y223delFs

POU3F4

225 papers

RefSeq Summary

This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epi...

Pfam Domains

Pouaa 189–260UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 279–335UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 3 homeobox 4

HGNC Previous Symbol

DFN3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000307.5
p.L222_Y223delFs
c.666_667delGT
Surrounding Variants
2 papers
NM_000307.5
p.T221_N225delFs
c.662_675del14
1 paper
NM_000307.5
p.Y223fs
c.667_668fs
5 papers
NM_000307.5
p.Y223*
c.669T>A
4 papers
NM_000307.5
p.Y223*
c.669T>G
1 paper
NM_000307.5
p.L219P
c.656T>C
1 paper
NM_000307.5
p.A218V
c.653C>T
1 paper
NM_000307.5
p.A218T
c.652G>A
4 papers
NM_000307.5
p.L217*
c.650T>A
2 papers
NM_000307.5
p.L217delFs
c.651delG
1 paper
NM_000307.5
p.L217insFs
c.649_650insC
3 papers
NM_000307.5
p.L217fs
c.649_650fs
2 papers
NM_000307.5
p.L217fs
c.649_650fs
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