Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.S349S

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
1 paper
NM_002701.6
p.S349S
c.1047C>T
Surrounding Variants
1 paper
NM_002701.6
p.V350F
c.1048G>T
1 paper
NM_002701.6
p.V350L
c.1048G>C
1 paper
NM_002701.6
p.S349A
c.1045T>G
1 paper
NM_002701.6
p.V348I
c.1042G>A
1 paper
NM_002701.6
p.P347L
c.1040C>T
1 paper
NM_002701.6
p.F345I
c.1033T>A
1 paper
NM_002701.6
p.A344T
c.1030G>A
1 paper
NM_002701.6
p.G342A
c.1025G>C
1 paper
NM_002701.6
p.G342_E343insG
c.1024_1028ins3
1 paper
NM_002701.6
p.P340delFs
c.1020delA
1 paper
NM_002701.6
p.S335Fs
c.1003delinsGAFs
1 paper
NM_002701.6
p.A332A
c.996A>G
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