Varaico: Literature-Extracted Genetic Variants

Gene:POU3F3
Variant:p.L259fs

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
2 papers
NM_006236.3
p.L259fs
c.775_776fs
Surrounding Variants
1 paper
NM_006236.3
p.G258delFs
c.774delG
1 paper
NM_006236.3
p.A251S
c.751G>T
1 paper
NM_006236.3
p.G250G
c.750A>G
2 papers
NM_006236.3
p.E269*
c.805G>T
2 papers
NM_006236.3
p.H277del1
c.829_830delCAC
1 paper
NM_006236.3
p.G246G
c.738C>G
1 paper
NM_006236.3
p.G246R
c.736G>C
1 paper
NM_006236.3
p.G245G
c.735C>G
4 papers
NM_006236.3
p.G246_A247del1
c.737_739delGCG
1 paper
NM_006236.3
p.P285T
c.853C>A
2 papers
NM_006236.3
p.G290E
c.869G>A
3 papers
NM_006236.3
p.G300del1
c.898_899delGGC
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