Varaico: Literature-Extracted Genetic Variants

NUP98

338 papers

RefSeq Summary

Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family....

Pfam Domains

Nup98_GLEBSaa 170–208UCSCNup98, Gle2-binding sequence

Nucleoporin2aa 704–851UCSCNup98-96 autopeptidase S59

Nup96aa 1298–1589UCSCNuclear protein 96

Gene Aliases

HGNC Name

nucleoporin 98 and 96 precursor

HGNC Alias Symbols

NUP96; Nup98-Nup96; Nup98-96; NUP196

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016320.5

p.T1788A

c.5362A>G

Surrounding Variants

1 paper

NM_016320.5

p.R1785H

c.5354G>A

1 paper

NM_016320.5

p.V1797F

c.5389G>T

1 paper

NM_016320.5

p.P1774S

c.5320C>T

1 paper

NM_016320.5

p.H1769N

c.5305C>A

2 papers

NM_016320.5

p.R1764H

c.5291G>A

1 paper

NM_016320.5

p.T1755I

c.5264C>T

2 papers

NM_016320.5

p.V1740M

c.5218G>A

1 paper

NM_016320.5

p.R1739H

c.5216G>A

1 paper

NM_016320.5

p.R1739C

c.5215C>T

3 papers

NM_016320.5

p.N1736S

c.5207A>G

1 paper

NM_016320.5

p.K1732I

c.5195A>T

1 paper

NM_016320.5

p.A1731T

c.5191G>A