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.E192*

c.574G>T

Surrounding Variants

1 paper

NM_014352.4

p.E192K

c.574G>A

1 paper

NM_014352.4

p.E192Q

c.574G>C

1 paper

NM_014352.4

p.E192A

c.575A>C

1 paper

NM_014352.4

p.E192G

c.575A>G

1 paper

NM_014352.4

p.E192V

c.575A>T

1 paper

NM_014352.4

p.E192D

c.576G>C

1 paper

NM_014352.4

p.E192D

c.576G>T

1 paper

NM_014352.4

p.L191Q

c.572T>A

1 paper

NM_014352.4

p.L191P

c.572T>C

1 paper

NM_014352.4

p.L191R

c.572T>G

1 paper

NM_014352.4

p.K193Q

c.577A>C

1 paper

NM_014352.4

p.K193E

c.577A>G