Varaico: Literature-Extracted Genetic Variants

NUP210

155 papers

RefSeq Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporin...

Pfam Domains

Ig_NUP210_1staa 25–114UCSCNUP210 Ig-like domain 1

Ig_NUP210_2ndaa 123–233UCSCNUP210 Ig-like domain 2

Ig_NUP210_3rdaa 241–345UCSCNUP210 Ig-like domain 3

Ig_NUP210_4thaa 355–433UCSCNUP210 forth Ig-like domain

Ig_NUP210_5thaa 456–534UCSCNUP210 Ig-like domain 5

Ig_NUP210_6thaa 538–626UCSCNUP210-like, Ig-like domain 6

Gene Aliases

HGNC Name

nucleoporin 210

HGNC Alias Symbols

GP210; POM210; FLJ22389; KIAA0906

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024923.4

p.W487*

c.1460G>A

Surrounding Variants

1 paper

NM_024923.4

p.W487*

c.1461G>A

1 paper

NM_024923.4

p.H492H

c.1476C>T

1 paper

NM_024923.4

p.G501S

c.1501G>A

1 paper

NM_024923.4

p.V519L

c.1555G>T

1 paper

NM_024923.4

p.V519L

c.1555G>C

1 paper

NM_024923.4

p.I476T

c.1427T>C

1 paper

NM_024923.4

p.Y472C

c.1415A>G

1 paper

NM_024923.4

p.I450L

c.1348A>C

1 paper

NM_024923.4

p.V442delFs

c.1326delC

1 paper

NM_024923.4

p.V442M

c.1324G>A

1 paper

NM_024923.4

p.M538T

c.1613T>C

1 paper

NM_024923.4

p.R548H

c.1643G>A