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.A132V

c.395C>T

Surrounding Variants

1 paper

NM_005085.4

p.E131_A132Splc

c.394-1G>A

2 papers

NM_005085.4

p.K133R

c.398A>G

1 paper

NM_005085.4

p.E131_A132Splc

c.394-2A>G

1 paper

NM_005085.4

p.Q134delFs

c.400delC

1 paper

NM_005085.4

p.Q134E

c.400C>G

1 paper

NM_005085.4

p.R137S

c.409C>A

2 papers

NM_005085.4

p.P138T

c.412C>A

1 paper

NM_005085.4

p.P138R

c.413C>G

1 paper

NM_005085.4

p.P138L

c.413C>T

1 paper

NM_005085.4

p.P138P

c.414A>G

1 paper

NM_005085.4

p.A140P

c.418G>C

2 papers

NM_005085.4

p.A140V

c.419C>T