Varaico: Literature-Extracted Genetic Variants

Gene:POU2F2

POU2F2

158 papers

RefSeq Summary

The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor bi...

Pfam Domains

Pouaa 198–269UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 298–354UCSCHomeodomain
POU2F1_Caa 343–573UCSCPOU domain, class 2, transcription factor 1 C-terminal

Gene Aliases

HGNC Name

POU class 2 homeobox 2

HGNC Previous Symbol

OTF2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
6 papers
NM_001394376.1
p.L80H
c.239T>A
5 papers
NM_001394376.1
p.S412S
c.1236C>T
4 papers
NM_001394376.1
p.P199L
c.596C>T
3 papers
NM_001394376.1
p.K233K
c.699G>A
3 papers
NM_001394376.1
p.S298N
c.893G>A
2 papers
NM_001394376.1
p.S14F
c.41C>T
2 papers
NM_001394376.1
p.K21E
c.61A>G
2 papers
NM_001394376.1
p.T117M
c.350C>T
2 papers
NM_001394376.1
p.L201P
c.602T>C
2 papers
NM_001394376.1
p.L503F
c.1507C>T
1 paper
NM_001394376.1
p.M1I
c.3G>A
1 paper
NM_001394376.1
p.H3L
c.8A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."