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.K203N

c.609A>T

Surrounding Variants

1 paper

NM_005085.4

p.K203N

c.609A>C

1 paper

NM_005085.4

p.G204_K205del2

c.610_614del6

1 paper

NM_005085.4

p.K203T

c.608A>C

6 papers

NM_005085.4

p.G204R

c.610G>A

6 papers

NM_005085.4

p.G204R

c.610G>C

1 paper

NM_005085.4

p.G204E

c.611G>A

1 paper

NM_005085.4

p.G204A

c.611G>C

1 paper

NM_005085.4

p.K205R

c.614A>G

1 paper

NM_005085.4

p.P202_G204del3

c.604_611del9

1 paper

NM_005085.4

p.W200*

c.600G>A

1 paper

NM_005085.4

p.L207V

c.619C>G

1 paper

NM_005085.4

p.W200*

c.599G>A