Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1B
Variant:p.N214D

POU5F1B

40 papers

RefSeq Summary

This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly t...

Pfam Domains

Pouaa 141–212UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 231–286UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 5 homeobox 1B

HGNC Previous Symbols

OTF3P1; POU5F1P1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001159542.3
p.N214D
c.640A>G
Surrounding Variants
1 paper
NM_001159542.3
p.M197fs
c.589_590fs
1 paper
NM_001159542.3
p.M197delFs
c.589_590delAT
2 papers
NM_001159542.3
p.K195T
c.584A>C
1 paper
NM_001159542.3
p.S193_N196delFs
c.577_586del10
5 papers
NM_001159542.3
p.E238Q
c.712G>C
2 papers
NM_001159542.3
p.K182T
c.545A>C
1 paper
NM_001159542.3
p.V178V
c.534G>A
1 paper
NM_001159542.3
p.F249F
c.747C>T
6 papers
NM_001159542.3
p.G176E
c.527G>A
2 papers
NM_001159542.3
p.P255S
c.763C>T
1 paper
NM_001159542.3
p.I170T
c.509T>C
1 paper
NM_001159542.3
p.E147*
c.439G>T
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