Varaico: Literature-Extracted Genetic Variants

Gene:POU3F3
Variant:p.A204del1

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.A204del1
c.610_611delGCG
Surrounding Variants
2 papers
NM_006236.3
p.A201fs
c.601_602fs
1 paper
NM_006236.3
p.A196A
c.588A>G
2 papers
NM_006236.3
p.A197del1
c.589_591delGCC
1 paper
NM_006236.3
p.Q214*
c.640C>T
1 paper
NM_006236.3
p.A189A
c.567G>C
2 papers
NM_006236.3
p.S223*
c.668C>A
1 paper
NM_006236.3
p.H180P
c.539A>C
1 paper
NM_006236.3
p.H180_A193delFs
c.539_578del40
2 papers
NM_006236.3
p.P175fs
c.523_524fs
2 papers
NM_006236.3
p.P175delFs
c.524delC
1 paper
NM_006236.3
p.L172H
c.515T>A
4 papers
NM_006236.3
p.G246_A247del1
c.737_739delGCG
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