Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_001247994.3

p.E185A

c.554A>C

Surrounding Variants

1 paper

NM_001394376.1

p.S220I

c.659G>T

1 paper

NM_001394376.1

p.Q227*

c.679C>T

1 paper

NM_001394376.1

p.E217K

c.649G>A

3 papers

NM_001394376.1

p.K233K

c.699G>A

1 paper

NM_001394376.1

p.K238E

c.712A>G

1 paper

NM_001394376.1

p.P206S

c.616C>T

1 paper

NM_001394376.1

p.F241Y

c.722T>A

2 papers

NM_001394376.1

p.L201P

c.602T>C

4 papers

NM_001394376.1

p.P199L

c.596C>T

1 paper

NM_001394376.1

p.P199R

c.596C>G

1 paper

NM_001394376.1

p.G251S

c.751G>A

1 paper

NM_001394376.1

p.G255delFs

c.764delC