Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.F201fs

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.F201fs
c.601_602fs
Surrounding Variants
3 papers
NM_000307.5
p.Q203_R204delFs
c.607_610del4
6 papers
NM_000307.5
p.K202del1
c.604_605delAAA
4 papers
NM_000307.5
p.K202fs
c.604_605fs
4 papers
NM_000307.5
p.K202E
c.604A>G
4 papers
NM_000307.5
p.K202*
c.604A>T
2 papers
NM_000307.5
p.F201_K202del0
c.601_606del6
1 paper
NM_000307.5
p.Q200_F201delFs
c.598_602del5
1 paper
NM_000307.5
p.K199E
c.595A>G
3 papers
NM_000307.5
p.Q203fs
c.607_608fs
2 papers
NM_000307.5
p.Q203fs
c.607_608fs
2 papers
NM_000307.5
p.R205del1
c.613_614delAGA
1 paper
NM_000307.5
p.R204fs
c.610_611fs
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