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.W610*

c.1829G>A

Surrounding Variants

1 paper

NM_001370959.1

p.E615Q

c.1843G>C

1 paper

NM_007252.4

p.M593L

c.1777A>C

1 paper

NM_007252.4

p.D565N

c.1693G>A

1 paper

NM_007252.4

p.G601R

c.1801G>A

1 paper

NM_007252.4

p.G601R

c.1801G>C

2 papers

NM_001370959.1

p.R637H

c.1910G>A

1 paper

NM_001370959.1

p.P645_Q646insAGC

c.1933_1937ins9

1 paper

NM_001370959.1

p.S574N

c.1721G>A

1 paper

NM_001370959.1

p.A567V

c.1700C>T

1 paper

NM_007252.4

p.N629H

c.1885A>C

2 papers

NM_001370959.1

p.S559_F561del3

c.1675_1682del9

2 papers

NM_001370959.1

p.R558_S559insCAG

c.1672_1676ins9