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.S45F

c.134C>T

Surrounding Variants

1 paper

NM_005085.4

p.S45A

c.133T>G

1 paper

NM_005085.4

p.V44V

c.132G>A

1 paper

NM_005085.4

p.V44E

c.131T>A

1 paper

NM_005085.4

p.V44A

c.131T>C

1 paper

NM_005085.4

p.A43G

c.128C>G

1 paper

NM_005085.4

p.A43S

c.127G>T

1 paper

NM_005085.4

p.Y48H

c.142T>C

1 paper

NM_005085.4

p.Y48insFs

c.143_144insA

1 paper

NM_005085.4

p.L42P

c.125T>C

1 paper

NM_005085.4

p.L42V

c.124C>G

1 paper

NM_005085.4

p.L41L

c.123G>A

1 paper

NM_005085.4

p.G49G

c.147T>A