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

3 papers

NM_005085.4

p.P221_T222Splc

c.663+1G>A

Surrounding Variants

1 paper

NM_005085.4

p.P221P

c.663T>A

1 paper

NM_005085.4

p.L220P

c.659T>C

1 paper

NM_005085.4

p.Y219H

c.655T>C

1 paper

NM_005085.4

p.Q218K

c.652C>A

1 paper

NM_005085.4

p.Q218*

c.652C>T

2 papers

NM_005085.4

p.V216A

c.647T>C

1 paper

NM_005085.4

p.V216M

c.646G>A

1 paper

NM_005085.4

p.V216L

c.646G>C

1 paper

NM_005085.4

p.V216L

c.646G>T

1 paper

NM_005085.4

p.T215T

c.645T>A

1 paper

NM_005085.4

p.T215I

c.644C>T

1 paper

NM_005085.4

p.T215A

c.643A>G