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

1 paper

NM_014352.4

p.R201K

c.602G>A

Surrounding Variants

1 paper

NM_014352.4

p.R201T

c.602G>C

1 paper

NM_014352.4

p.R201M

c.602G>T

1 paper

NM_014352.4

p.R201G

c.601A>G

1 paper

NM_014352.4

p.R201W

c.601A>T

1 paper

NM_014352.4

p.R201S

c.603G>C

1 paper

NM_014352.4

p.R201S

c.603G>T

1 paper

NM_014352.4

p.R202S

c.604C>A

1 paper

NM_014352.4

p.R202G

c.604C>G

2 papers

NM_014352.4

p.R202C

c.604C>T

1 paper

NM_014352.4

p.Q200H

c.600G>C

1 paper

NM_014352.4

p.Q200H

c.600G>T

1 paper

NM_014352.4

p.Q200P

c.599A>C