Varaico: Literature-Extracted Genetic Variants

Gene:POU4F1
Variant:p.D79E

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.D79E
c.237C>A
Surrounding Variants
1 paper
NM_006237.4
p.D79E
c.237C>G
1 paper
NM_006237.4
p.K77K
c.231G>A
1 paper
NM_006237.4
p.T84M
c.251C>T
1 paper
NM_006237.4
p.T91fs
c.271_272fs
1 paper
NM_006237.4
p.S92A
c.274T>G
3 papers
NM_006237.4
p.T91_S94delFs
c.271_281del11
1 paper
NM_006237.4
p.T95A
c.283A>G
1 paper
NM_006237.4
p.A63T
c.187G>A
2 papers
NM_006237.4
p.T95_P97delFs
c.283_290del8
1 paper
NM_006237.4
p.A60G
c.179C>G
1 paper
NM_006237.4
p.T53_L54delFs
c.158_162del5
2 papers
NM_006237.4
p.T53_L54insFs
c.158_161dup4
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