Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.S93A

POU5F1

367 papers

RefSeq Summary

This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is as...

Pfam Domains

Pouaa 1–42UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 61–117UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 5 homeobox 1

HGNC Previous Symbol

OTF3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002701.6
p.S93A
c.277T>G
Surrounding Variants
1 paper
NM_002701.6
p.Q94*
c.280C>T
1 paper
NM_002701.6
p.E91delFs
c.273delC
1 paper
NM_002701.6
p.E91*
c.271G>T
1 paper
NM_002701.6
p.P95H
c.284C>A
1 paper
NM_002701.6
p.G97G
c.291C>T
1 paper
NM_002701.6
p.E98D
c.294A>T
1 paper
NM_002701.6
p.E98D
c.294A>C
1 paper
NM_002701.6
p.P86P
c.258C>T
1 paper
NM_002701.6
p.P86P
c.258C>A
1 paper
NM_002701.6
p.A99insFs
c.297dupA
1 paper
NM_002701.6
p.G102R
c.304G>C
1 paper
NM_002701.6
p.G102R
c.304G>A
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