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.M195L

c.583A>T

Surrounding Variants

2 papers

NM_015354.3

p.M195L

c.583A>C

1 paper

NM_015354.3

p.T190P

c.568A>C

1 paper

NM_015354.3

p.S171*

c.512C>A

1 paper

NM_015354.3

p.S171*

c.512C>G

1 paper

NM_015354.3

p.Y154C

c.461A>G

1 paper

NM_015354.3

p.H152H

c.456C>T

1 paper

NM_015354.3

p.R138C

c.412C>T

3 papers

NM_015354.3

p.Q113*

c.337C>T

3 papers

NM_015354.3

p.R105W

c.313C>T

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.Y96insFs

c.287dupA