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.R12R

c.36G>A

Surrounding Variants

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

1 paper

NM_005085.4

p.E13del1

c.37_38delGAG

1 paper

NM_005085.4

p.E13insFs

c.38_39insG

2 papers

NM_005085.4

p.R12R

c.34C>A

2 papers

NM_005085.4

p.R12delFs

c.35delG

1 paper

NM_005085.4

p.E11_R12insFs

c.33_34insC

2 papers

NM_005085.4

p.M14V

c.40A>G

2 papers

NM_005085.4

p.E11V

c.32A>T

1 paper

NM_005085.4

p.M14L

c.40A>T

2 papers

NM_005085.4

p.M14K

c.41T>A