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

2 papers

NM_001370959.1

p.Q225_P226del1

c.674_676delAGC

Surrounding Variants

1 paper

NM_001370959.1

p.L215_Q216ins1

c.645_646insAGC

1 paper

NM_001370959.1

p.Q212_L213ins0

c.635_637dupAGC

1 paper

NM_001370959.1

p.Q262K

c.784C>A

1 paper

NM_001370959.1

p.Q273H

c.819G>T

1 paper

NM_007252.4

p.S264A

c.790T>G

1 paper

NM_007252.4

p.S264Y

c.791C>A

1 paper

NM_001166018.2

p.P280L

c.839C>T

1 paper

NM_001370959.1

p.L317H

c.950T>A

1 paper

NM_001166018.2

p.N292S

c.875A>G