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.F198L

c.594C>A

Surrounding Variants

1 paper

NM_014352.4

p.F198L

c.594C>G

1 paper

NM_014352.4

p.K199Q

c.595A>C

1 paper

NM_014352.4

p.K199E

c.595A>G

1 paper

NM_014352.4

p.K199*

c.595A>T

1 paper

NM_014352.4

p.F198Y

c.593T>A

1 paper

NM_014352.4

p.F198S

c.593T>C

1 paper

NM_014352.4

p.F198C

c.593T>G

1 paper

NM_014352.4

p.K199T

c.596A>C

1 paper

NM_014352.4

p.K199R

c.596A>G

1 paper

NM_014352.4

p.K199M

c.596A>T

1 paper

NM_014352.4

p.F198I

c.592T>A

1 paper

NM_014352.4

p.F198L

c.592T>C