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

6 papers

NM_005085.4

p.E4D

c.12G>C

Surrounding Variants

7 papers

NM_005085.4

p.E4E

c.12G>A

1 paper

NM_005085.4

p.M5L

c.13A>C

1 paper

NM_005085.4

p.M5T

c.14T>C

2 papers

NM_005085.4

p.M5I

c.15G>A

1 paper

NM_005085.4

p.D3G

c.8A>G

1 paper

NM_005085.4

p.D3V

c.8A>T

1 paper

NM_005085.4

p.D6N

c.16G>A

5 papers

NM_005085.4

p.D3N

c.7G>A

1 paper

NM_005085.4

p.D3H

c.7G>C

1 paper

NM_005085.4

p.G2G

c.6A>C

1 paper

NM_005085.4

p.G2G

c.6A>G

1 paper

NM_005085.4

p.D6E

c.18T>A