Varaico: Literature-Extracted Genetic Variants

NUP188

117 papers

RefSeq Summary

The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approxim...

Pfam Domains

Nup188_Naa 31–486UCSCNucleoporin Nup188, N-terminal

Nup188_SH3-likeaa 487–528UCSCNup188 SH3-like domain

Nup188_N-subdom_IIIaa 529–940UCSCNucleoporin Nup188, N-terminal subdomain III

Gene Aliases

HGNC Name

nucleoporin 188

HGNC Previous Symbol

KIAA0169

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015354.3

p.R42*

c.124C>T

Surrounding Variants

1 paper

NM_015354.3

p.R41R

c.121C>A

1 paper

NM_015354.3

p.R41W

c.121C>T

1 paper

NM_015354.3

p.K38_H39insFs

c.114_115insG

1 paper

NM_015354.3

p.P52T

c.154C>A

1 paper

NM_015354.3

p.L29_S30Splc

c.88-2A>G

1 paper

NM_015354.3

p.S54Splc

c.162-156T>C

1 paper

NM_015354.3

p.S54Splc

c.162-150T>C

1 paper

NM_015354.3

p.S54Splc

c.162-116T>C

1 paper

NM_015354.3

p.S54Splc

c.162-115T>G

1 paper

NM_015354.3

p.S54Splc

c.162-114T>G

1 paper

NM_015354.3

p.S54Splc

c.162-113A>G

1 paper

NM_015354.3

p.L29M

c.85C>A