Varaico: Literature-Extracted Genetic Variants

Gene:POU4F1
Variant:p.G166_G169del0

POU4F1

58 papers

RefSeq Summary

This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous sy...

Pfam Domains

Pouaa 263–337UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 356–412UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 4 homeobox 1

HGNC Previous Symbol

BRN3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006237.4
p.G166_G169del0
c.498_506del9
Surrounding Variants
1 paper
NM_006237.4
p.G158_G162del5
c.472_485del15
1 paper
NM_006237.4
p.G162_P163insFs
c.486_487insGG
1 paper
NM_006237.4
p.G162_P163ins1
c.486_487insGGC
1 paper
NM_006237.4
p.P159P
c.477G>C
1 paper
NM_006237.4
p.P159R
c.476C>G
1 paper
NM_006237.4
p.P159A
c.475C>G
1 paper
NM_006237.4
p.G150delFs
c.450delA
1 paper
NM_006237.4
p.G151fs
c.451_452fs
1 paper
NM_006237.4
p.G150G
c.450T>C
1 paper
NM_006237.4
p.G135fs
c.403_404fs
1 paper
NM_006237.4
p.H108_Q109del2
c.322_326del6
6 papers
NM_006237.4
p.H108_Q109del1
c.324_326delTGG
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