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

2 papers

NM_005085.4

p.T180M

c.539C>T

Surrounding Variants

1 paper

NM_005085.4

p.V179F

c.535G>T

1 paper

NM_005085.4

p.T182A

c.544A>G

2 papers

NM_005085.4

p.T182T

c.546A>T

1 paper

NM_005085.4

p.V183A

c.548T>C

1 paper

NM_005085.4

p.V176L

c.526G>C

1 paper

NM_005085.4

p.V176F

c.526G>T

1 paper

NM_005085.4

p.A175G

c.524C>G

1 paper

NM_005085.4

p.V185A

c.554T>C

1 paper

NM_005085.4

p.V185G

c.554T>G

2 papers

NM_005085.4

p.C186S

c.556T>A

1 paper

NM_005085.4

p.I174I

c.522T>A

2 papers

NM_005085.4

p.C186S

c.557G>C