Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.S74fs

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.S74fs
c.220_221fs
Surrounding Variants
2 papers
NM_000307.5
p.S74fs
c.220_221fs
3 papers
NM_000307.5
p.S74delFs
c.220delA
1 paper
NM_000307.5
p.P75S
c.223C>T
1 paper
NM_000307.5
p.A72S
c.214G>T
1 paper
NM_000307.5
p.T70fs
c.208_209fs
3 papers
NM_000307.5
p.Q78*
c.232C>T
12 papers
NM_000307.5
p.Q79delFs
c.235delC
8 papers
NM_000307.5
p.Q79*
c.235C>T
1 paper
NM_000307.5
p.S69P
c.205T>C
3 papers
NM_000307.5
p.Q79Q
c.237G>A
4 papers
NM_000307.5
p.W67*
c.201G>A
5 papers
NM_000307.5
p.W67*
c.200G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."