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

1–12 of 1092 variants

8 papers

NM_005085.4

p.Q18L

c.53A>T

8 papers

NM_005085.4

p.A53T

c.157G>A

8 papers

NM_005085.4

p.I765V

c.2293A>G

7 papers

NM_005085.4

p.E4E

c.12G>A

6 papers

NM_005085.4

p.M1I

c.3G>A

6 papers

NM_005085.4

p.E4D

c.12G>C

6 papers

NM_005085.4

p.D154G

c.461A>G

6 papers

NM_005085.4

p.G204R

c.610G>A

6 papers

NM_005085.4

p.G204R

c.610G>C

5 papers

NM_005085.4

p.M1V

c.1A>G

5 papers

NM_005085.4

p.M1T

c.2T>C

5 papers

NM_005085.4

p.D3N

c.7G>A