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.E37E

c.111A>G

Surrounding Variants

3 papers

NM_005085.4

p.E37A

c.110A>C

5 papers

NM_005085.4

p.R38C

c.112C>T

1 paper

NM_005085.4

p.E37K

c.109G>A

1 paper

NM_005085.4

p.E37insFs

c.109_110ins5

1 paper

NM_005085.4

p.K36K

c.108G>A

1 paper

NM_005085.4

p.K36E

c.106A>G

1 paper

NM_005085.4

p.P35P

c.105C>A

1 paper

NM_005085.4

p.S40G

c.118A>G

2 papers

NM_005085.4

p.P35S

c.103C>T

1 paper

NM_005085.4

p.L34*

c.101T>A

1 paper

NM_005085.4

p.E33D

c.99A>T

1 paper

NM_005085.4

p.L41L

c.123G>A