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

1–12 of 172 variants

4 papers

NM_015354.3

p.Q1579_S1580Splc

c.4737+1G>T

3 papers

NM_015354.3

p.Y96insFs

c.287dupA

3 papers

NM_015354.3

p.Y96*

c.288C>A

3 papers

NM_015354.3

p.Y96*

c.288C>G

3 papers

NM_015354.3

p.R105W

c.313C>T

3 papers

NM_015354.3

p.Q113*

c.337C>T

3 papers

NM_015354.3

p.I302_C303delFs

c.904_907del4

3 papers

NM_015354.3

p.Q363*

c.1087C>T

2 papers

NM_015354.3

p.R42*

c.124C>T

2 papers

NM_015354.3

p.M195L

c.583A>C

2 papers

NM_015354.3

p.M195L

c.583A>T

2 papers

NM_015354.3

p.R202H

c.605G>A