Varaico: Literature-Extracted Genetic Variants

POU6F2

55 papers

RefSeq Summary

This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable pol...

Pfam Domains

Pouaa 479–529UCSCPou domain - N-terminal to homeobox domain

Pouaa 543–586UCSCPou domain - N-terminal to homeobox domain

Homeodomainaa 608–664UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 6 homeobox 2

HGNC Alias Symbol

RPF-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001370959.1

p.P116L

c.347C>T

Surrounding Variants

2 papers

NM_001370959.1

p.A111V

c.332C>T

1 paper

NM_001370959.1

p.A99V

c.296C>T

1 paper

NM_001370959.1

p.P98L

c.293C>T

1 paper

NM_001370959.1

p.G96G

c.288A>T

1 paper

NM_001370959.1

p.M139I

c.417G>A

1 paper

NM_001370959.1

p.M139I

c.417G>C

1 paper

NM_001370959.1

p.M139I

c.417G>T

1 paper

NM_001370959.1

p.P140delins

c.418_419delinsAA

1 paper

NM_001166018.2

p.P111L

c.332C>T

1 paper

NM_007252.4

p.N118S

c.353A>G

1 paper

NM_001370959.1

p.Q179*

c.535C>T

1 paper

NM_001370959.1

p.A184insFs

c.550_551insA