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.L219P

c.656T>C

Surrounding Variants

1 paper

NM_014352.4

p.L219Q

c.656T>A

1 paper

NM_014352.4

p.L219R

c.656T>G

1 paper

NM_014352.4

p.L219M

c.655C>A

1 paper

NM_014352.4

p.L219V

c.655C>G

1 paper

NM_014352.4

p.K218N

c.654G>C

1 paper

NM_014352.4

p.K218N

c.654G>T

1 paper

NM_014352.4

p.Y220N

c.658T>A

1 paper

NM_014352.4

p.Y220H

c.658T>C

1 paper

NM_014352.4

p.Y220D

c.658T>G

1 paper

NM_014352.4

p.K218T

c.653A>C

1 paper

NM_014352.4

p.Y220S

c.659A>C

1 paper

NM_014352.4

p.K218R

c.653A>G