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.M1Fs

c.2delinsTGFs

Surrounding Variants

1 paper

NM_005085.4

p.M1K

c.2T>A

5 papers

NM_005085.4

p.M1T

c.2T>C

2 papers

NM_005085.4

p.M1R

c.2T>G

2 papers

NM_005085.4

p.M1insFs

c.2dupT

3 papers

NM_005085.4

p.M1L

c.1A>C

5 papers

NM_005085.4

p.M1V

c.1A>G

3 papers

NM_005085.4

p.M1L

c.1A>T

6 papers

NM_005085.4

p.M1I

c.3G>A

4 papers

NM_005085.4

p.M1I

c.3G>C

1 paper

NM_005085.4

p.M1_G2insFs

c.3_4insA

1 paper

NM_005085.4

p.M1_G2insFs

c.3_4insT

4 papers

NM_005085.4

p.M1I

c.3G>T