Varaico: Literature-Extracted Genetic Variants

NUP214

1,869 papers

RefSeq Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporin...

Pfam Domains

Beta-prop_NUP159_NUP214aa 35–398UCSCNUP159/214 beta propeller

Nup214_FGaa 1915–1977UCSCNucleoporin Nup214 phenylalanine-glycine (FG) domain

Gene Aliases

HGNC Name

nucleoporin 214

HGNC Alias Symbols

CAIN; CAN; D9S46E; N214

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005085.4

p.V152A

c.455T>C

Surrounding Variants

1 paper

NM_005085.4

p.V152V

c.456G>A

1 paper

NM_005085.4

p.D154N

c.460G>A

1 paper

NM_005085.4

p.D154_M155insFs

c.462_463insGT

6 papers

NM_005085.4

p.D154G

c.461A>G

1 paper

NM_005085.4

p.G150R

c.448G>C

1 paper

NM_005085.4

p.M155L

c.463A>C

1 paper

NM_005085.4

p.M155L

c.463A>T

1 paper

NM_005085.4

p.G149E

c.446G>A

2 papers

NM_005085.4

p.G149A

c.446G>C

1 paper

NM_005085.4

p.G149R

c.445G>A

2 papers

NM_005085.4

p.G149R

c.445G>C

1 paper

NM_005085.4

p.K156M

c.467A>T