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.S230L

c.689C>T

Surrounding Variants

1 paper

NM_014352.4

p.S230T

c.688T>A

1 paper

NM_014352.4

p.S230P

c.688T>C

1 paper

NM_014352.4

p.S230A

c.688T>G

1 paper

NM_014352.4

p.I229M

c.687C>G

1 paper

NM_014352.4

p.R231G

c.691C>G

1 paper

NM_014352.4

p.R231*

c.691C>T

1 paper

NM_014352.4

p.R231Q

c.692G>A

1 paper

NM_014352.4

p.R231P

c.692G>C

1 paper

NM_014352.4

p.R231L

c.692G>T

1 paper

NM_014352.4

p.I229N

c.686T>A

1 paper

NM_014352.4

p.I229T

c.686T>C

1 paper

NM_014352.4

p.I229S

c.686T>G