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

1 paper

NM_015354.3

p.V1603A

c.4808T>C

Surrounding Variants

1 paper

NM_015354.3

p.T1609A

c.4825A>G

1 paper

NM_015354.3

p.V1614M

c.4840G>A

1 paper

NM_015354.3

p.L1589P

c.4766T>C

1 paper

NM_015354.3

p.Q1579_S1580Splc

c.4737+5T>G

4 papers

NM_015354.3

p.Q1579_S1580Splc

c.4737+1G>T

2 papers

NM_015354.3

p.D1578E

c.4734T>A

2 papers

NM_015354.3

p.D1578E

c.4734T>G

1 paper

NM_015354.3

p.T1561M

c.4682C>T

2 papers

NM_015354.3

p.S1532S

c.4596A>C

1 paper

NM_015354.3

p.S1532insFs

c.4595dupC

1 paper

NM_015354.3

p.S1532fs

c.4594_4595fs

1 paper

NM_015354.3

p.Q1516H

c.4548G>C