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.R790C

c.2368C>T

Surrounding Variants

1 paper

NM_005085.4

p.R790H

c.2369G>A

1 paper

NM_005085.4

p.S792_G793insC

c.2374_2378ins3

2 papers

NM_005085.4

p.E787K

c.2359G>A

1 paper

NM_005085.4

p.E784K

c.2350G>A

4 papers

NM_005085.4

p.R783G

c.2347A>G

1 paper

NM_005085.4

p.L798P

c.2393T>C

1 paper

NM_005085.4

p.K800R

c.2399A>G

1 paper

NM_005085.4

p.A777T

c.2329G>A

1 paper

NM_005085.4

p.K806_E808del3

c.2416_2423del9

1 paper

NM_005085.4

p.E774_G775insC

c.2320_2324ins3

1 paper

NM_005085.4

p.S767delFs

c.2301delC

9 papers

NM_001318324.2

p.I755V

c.2263A>G

NM_005085.4

p.I765V

c.2293A>G