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.V51insFs

c.151_152insC

Surrounding Variants

1 paper

NM_005085.4

p.V51I

c.151G>A

2 papers

NM_005085.4

p.V51D

c.152T>A

2 papers

NM_005085.4

p.V51A

c.152T>C

1 paper

NM_005085.4

p.L50M

c.148C>A

2 papers

NM_005085.4

p.F52I

c.154T>A

1 paper

NM_005085.4

p.G49G

c.147T>A

1 paper

NM_005085.4

p.F52L

c.156C>G

8 papers

NM_005085.4

p.A53T

c.157G>A

1 paper

NM_005085.4

p.A53G

c.158C>G

1 paper

NM_005085.4

p.A53V

c.158C>T

1 paper

NM_005085.4

p.G54delFs

c.161delG

2 papers

NM_005085.4

p.G54S

c.160G>A