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

Selected Variant

2 papers

NM_014352.4

p.R390K

c.1169G>A

Surrounding Variants

1 paper

NM_014352.4

p.A405T

c.1213G>A

1 paper

NM_014352.4

p.A412T

c.1234G>A

1 paper

NM_001244682.2

p.N423Y

c.1267A>T

1 paper

NM_014352.4

p.G424E

c.1271G>A

1 paper

NM_014352.4

p.W426*

c.1277G>A

1 paper

NM_014352.4

p.P359L

c.1076C>T

1 paper

NM_014352.4

p.K305I

c.914A>T

1 paper

NM_014352.4

p.R293H

c.878G>A

1 paper

NM_014352.4

p.N291T

c.872A>C

1 paper

NM_014352.4

p.T290T

c.870C>G

1 paper

NM_014352.4

p.T267T

c.801G>A