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.Q808P

c.2423A>C

Surrounding Variants

1 paper

NM_024923.4

p.A817T

c.2449G>A

1 paper

NM_024923.4

p.S818_I819insA

c.2452_2456ins3

3 papers

NM_024923.4

p.P821A

c.2461C>G

1 paper

NM_024923.4

p.Y792H

c.2374T>C

9 papers

NM_024923.4

p.R786L

c.2357G>T

2 papers

NM_024923.4

p.R786Q

c.2357G>A

1 paper

NM_024923.4

p.P824_Q830del7

c.2470_2489del21

1 paper

NM_024923.4

p.D831A

c.2492A>C

1 paper

NM_024923.4

p.R783H

c.2348G>A

1 paper

NM_024923.4

p.G835C

c.2503G>T

1 paper

NM_024923.4

p.Q836K

c.2506C>A

1 paper

NM_024923.4

p.R872K

c.2615G>A