Varaico: Literature-Extracted Genetic Variants

NUP155

156 papers

RefSeq Summary

Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE)....

Pfam Domains

Nucleoporin_Naa 77–510UCSCNup133 N terminal like

Nucleoporin_Caa 660–811UCSCNon-repetitive/WGA-negative nucleoporin C-terminal

Nucleoporin_Caa 660–1372UCSCNon-repetitive/WGA-negative nucleoporin C-terminal

Gene Aliases

HGNC Name

nucleoporin 155

HGNC Alias Symbols

KIAA0791; N155

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_153485.3

p.E92G

c.275A>G

Surrounding Variants

1 paper

NM_153485.3

p.E92A

c.275A>C

8 papers

NM_153485.3

p.E92Q

c.274G>C

1 paper

NM_153485.3

p.E92K

c.274G>A

1 paper

NM_153485.3

p.L89V

c.265C>G

1 paper

NM_153485.3

p.V87I

c.259G>A

1 paper

NM_153485.3

p.R85Q

c.254G>A

1 paper

NM_153485.3

p.I84V

c.250A>G

1 paper

NM_153485.3

p.P76S

c.226C>T

1 paper

NM_153485.3

p.V75I

c.223G>A

1 paper

NM_153485.3

p.L67L

c.201G>A

1 paper

NM_153485.3

p.D64A

c.191A>C

2 papers

NM_153485.3

p.D64N

c.190G>A