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.M14V

c.40A>G

Surrounding Variants

1 paper

NM_005085.4

p.M14L

c.40A>T

2 papers

NM_005085.4

p.M14K

c.41T>A

1 paper

NM_005085.4

p.M14T

c.41T>C

1 paper

NM_005085.4

p.M14delFs

c.42delG

1 paper

NM_005085.4

p.E13insFs

c.38_39insG

1 paper

NM_005085.4

p.M14I

c.42G>A

1 paper

NM_005085.4

p.K15E

c.43A>G

1 paper

NM_005085.4

p.K15R

c.44A>G

1 paper

NM_005085.4

p.R12R

c.36G>A

1 paper

NM_005085.4

p.R12R

c.36G>C

2 papers

NM_005085.4

p.R12Q

c.35G>A

1 paper

NM_005085.4

p.R12L

c.35G>T