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.L67R

c.200T>G

Surrounding Variants

1 paper

NM_005085.4

p.L67I

c.199C>A

1 paper

NM_005085.4

p.L68del1

c.202_204delCTT

1 paper

NM_005085.4

p.L68_I69delFs

c.204_205delTA

1 paper

NM_005085.4

p.L68_K72delFs

c.204_214del11

1 paper

NM_005085.4

p.K65T

c.194A>C

1 paper

NM_005085.4

p.K65*

c.193A>T

1 paper

NM_005085.4

p.Q70E

c.208C>G

1 paper

NM_005085.4

p.Q70R

c.209A>G

2 papers

NM_005085.4

p.Q70L

c.209A>T

1 paper

NM_005085.4

p.T64S

c.190A>T

1 paper

NM_005085.4

p.N71T

c.212A>C

1 paper

NM_005085.4

p.P63H

c.188C>A