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.V198Splc

c.592+14G>T

Surrounding Variants

2 papers

NM_005085.4

p.S197S

c.591T>A

1 paper

NM_005085.4

p.T196fs

c.586_587fs

1 paper

NM_005085.4

p.T196A

c.586A>G

1 paper

NM_005085.4

p.V195A

c.584T>C

1 paper

NM_005085.4

p.A194V

c.581C>T

4 papers

NM_005085.4

p.T192T

c.576G>A

1 paper

NM_005085.4

p.S191S

c.573C>T

1 paper

NM_005085.4

p.S191F

c.572C>T

1 paper

NM_005085.4

p.S191T

c.571T>A

1 paper

NM_005085.4

p.P190insFs

c.569_570insA

1 paper

NM_005085.4

p.P190S

c.568C>T

1 paper

NM_005085.4

p.T188T

c.564T>C