Varaico: Literature-Extracted Genetic Variants

Gene:POU3F3
Variant:p.G300del1

POU3F3

89 papers

RefSeq Summary

This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role ...

Pfam Domains

Pouaa 317–388UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 407–463UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 3 homeobox 3

HGNC Alias Symbols

BRN1; OTF8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006236.3
p.G300del1
c.898_899delGGC
Surrounding Variants
1 paper
NM_006236.3
p.H294_G296del0
c.882_887del6
1 paper
NM_006236.3
p.G296G
c.888C>T
2 papers
NM_006236.3
p.G290E
c.869G>A
1 paper
NM_006236.3
p.G299G
c.897C>G
1 paper
NM_006236.3
p.G300G
c.900C>G
1 paper
NM_006236.3
p.A301V
c.902C>T
1 paper
NM_006236.3
p.A301A
c.903G>A
1 paper
NM_006236.3
p.P285T
c.853C>A
1 paper
NM_006236.3
p.D309N
c.925G>A
2 papers
NM_006236.3
p.H277del1
c.829_830delCAC
2 papers
NM_006236.3
p.E269*
c.805G>T
1 paper
NM_006236.3
p.Q324*
c.970C>T
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