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.K24delFs

c.72delG

Surrounding Variants

1 paper

NM_005085.4

p.K24T

c.71A>C

1 paper

NM_005085.4

p.K24M

c.71A>T

1 paper

NM_005085.4

p.K24E

c.70A>G

2 papers

NM_005085.4

p.K24*

c.70A>T

1 paper

NM_005085.4

p.K24K

c.72G>A

1 paper

NM_005085.4

p.K24N

c.72G>T

2 papers

NM_005085.4

p.K23N

c.69G>C

1 paper

NM_005085.4

p.K23N

c.69G>T

1 paper

NM_005085.4

p.K23T

c.68A>C

1 paper

NM_005085.4

p.K23Q

c.67A>C

1 paper

NM_005085.4

p.L22Q

c.65T>A

2 papers

NM_005085.4

p.L22P

c.65T>C