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_007252.4

p.N118S

c.353A>G

Surrounding Variants

1 paper

NM_001166018.2

p.P111L

c.332C>T

1 paper

NM_001370959.1

p.P140delins

c.418_419delinsAA

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.Q179*

c.535C>T

1 paper

NM_001370959.1

p.A184insFs

c.550_551insA

1 paper

NM_001370959.1

p.A184_A185insFs

c.552_553insAG

1 paper

NM_001370959.1

p.A186_A187ins1

c.558_559insAGC

1 paper

NM_001370959.1

p.A186_A187ins1

c.558_559insCAG

1 paper

NM_001370959.1

p.A187ins0

c.559_561dupGCC

3 papers

NM_001370959.1

p.A187del1

c.559_560delGCC