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.T160I

c.479C>T

Surrounding Variants

1 paper

NM_005085.4

p.V161L

c.481G>C

1 paper

NM_005085.4

p.P162delFs

c.486delC

1 paper

NM_005085.4

p.N158S

c.473A>G

2 papers

NM_005085.4

p.N158D

c.472A>G

1 paper

NM_005085.4

p.S163delFs

c.489delC

1 paper

NM_005085.4

p.S163F

c.488C>T

1 paper

NM_005085.4

p.W157R

c.469T>A

1 paper

NM_005085.4

p.K156M

c.467A>T

1 paper

NM_005085.4

p.M164I

c.492G>A

1 paper

NM_005085.4

p.M155L

c.463A>C

1 paper

NM_005085.4

p.M155L

c.463A>T

1 paper

NM_005085.4

p.D154_M155insFs

c.462_463insGT