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

1–12 of 62 variants

9 papers

NM_001370959.1

p.V50A

c.149T>C

3 papers

NM_001370959.1

p.A187del1

c.559_560delGCC

2 papers

NM_001370959.1

p.K63delFs

c.187delA

2 papers

NM_001370959.1

p.A111V

c.332C>T

2 papers

NM_001370959.1

p.Q225_P226del1

c.674_676delAGC

2 papers

NM_001370959.1

p.R558_S559insCAG

c.1672_1676ins9

2 papers

NM_001370959.1

p.S559_F561del3

c.1675_1682del9

2 papers

NM_001370959.1

p.R637H

c.1910G>A

2 papers

NM_001370959.1

p.N674_D676del3

c.2020_2027del9

1 paper

NM_001370959.1

p.Y19D

c.55T>G

1 paper

NM_001370959.1

p.S21*

c.62C>A

1 paper

NM_001370959.1

p.S21*

c.62C>G