Varaico: Literature-Extracted Genetic Variants

POU2F3

49 papers

RefSeq Summary

This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation path...

Pfam Domains

Pouaa 186–257UCSCPou domain - N-terminal to homeobox domain

Homeodomainaa 282–338UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 2 homeobox 3

HGNC Alias Symbols

OCT11; PLA-1; Skn-1a; Epoc-1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 405 variants

4 papers

NM_014352.4

p.H152R

c.455A>G

2 papers

NM_001244682.2

p.H154R

c.461A>G

2 papers

NM_014352.4

p.R202C

c.604C>T

2 papers

NM_014352.4

p.R390K

c.1169G>A

1 paper

NM_014352.4

p.L4V

c.10C>G

1 paper

NM_014352.4

p.E5Q

c.13G>C

1 paper

NM_014352.4

p.E5E

c.15G>A

1 paper

NM_014352.4

p.E5D

c.15G>C

1 paper

NM_014352.4

p.E5D

c.15G>T

1 paper

NM_014352.4

p.T9T

c.27A>C

1 paper

NM_014352.4

p.T9T

c.27A>G

1 paper

NM_014352.4

p.T9T

c.27A>T