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.I708F

c.2122A>T

Surrounding Variants

2 papers

NM_024923.4

p.H698fs

c.2092_2093fs

1 paper

NM_024923.4

p.H698insFs

c.2092dupC

1 paper

NM_024923.4

p.I690M

c.2070C>G

2 papers

NM_024923.4

p.V682I

c.2044G>A

1 paper

NM_024923.4

p.E674K

c.2020G>A

3 papers

NM_024923.4

p.P733T

c.2197C>A

1 paper

NM_024923.4

p.P739L

c.2216C>T

1 paper

NM_024923.4

p.A747T

c.2239G>A

3 papers

NM_024923.4

p.A755V

c.2264C>T

1 paper

NM_024923.4

p.Q771*

c.2311C>T

1 paper

NM_024923.4

p.V629I

c.1885G>A

4 papers

NM_024923.4

p.I608V

c.1822A>G