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.D16A

c.47A>C

Surrounding Variants

2 papers

NM_005085.4

p.D16N

c.46G>A

1 paper

NM_005085.4

p.D16Y

c.46G>T

2 papers

NM_005085.4

p.K15_D16Splc

c.46-1G>A

1 paper

NM_005085.4

p.F17I

c.49T>A

2 papers

NM_005085.4

p.F17L

c.49T>C

1 paper

NM_005085.4

p.K15_D16Splc

c.46-2A>C

1 paper

NM_005085.4

p.K15_D16Splc

c.46-2A>G

1 paper

NM_005085.4

p.F17L

c.51T>A

1 paper

NM_005085.4

p.F17L

c.51T>G

1 paper

NM_005085.4

p.Q18K

c.52C>A

1 paper

NM_005085.4

p.Q18E

c.52C>G

8 papers

NM_005085.4

p.Q18L

c.53A>T