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.C168S

c.503G>C

Surrounding Variants

1 paper

NM_005085.4

p.C168S

c.502T>A

1 paper

NM_005085.4

p.C168C

c.504T>C

1 paper

NM_005085.4

p.V167V

c.501T>C

1 paper

NM_005085.4

p.A170delFs

c.509_510delCT

1 paper

NM_005085.4

p.A166E

c.497C>A

1 paper

NM_005085.4

p.A166G

c.497C>G

1 paper

NM_005085.4

p.A166V

c.497C>T

1 paper

NM_005085.4

p.A170V

c.509C>T

1 paper

NM_005085.4

p.M164I

c.492G>A

1 paper

NM_005085.4

p.G172S

c.514G>A

1 paper

NM_005085.4

p.G172D

c.515G>A

3 papers

NM_005085.4

p.S173C

c.517A>T