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.D183G

c.548A>G

Surrounding Variants

1 paper

NM_014352.4

p.D183V

c.548A>T

1 paper

NM_014352.4

p.D183N

c.547G>A

1 paper

NM_014352.4

p.D183H

c.547G>C

1 paper

NM_014352.4

p.D183E

c.549T>A

1 paper

NM_014352.4

p.D183E

c.549T>G

1 paper

NM_014352.4

p.E184K

c.550G>A

1 paper

NM_014352.4

p.E184Q

c.550G>C

1 paper

NM_014352.4

p.E184*

c.550G>T

1 paper

NM_014352.4

p.E184A

c.551A>C

1 paper

NM_014352.4

p.E184G

c.551A>G

1 paper

NM_014352.4

p.E184V

c.551A>T

1 paper

NM_014352.4

p.E184D

c.552G>C