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.P292L

c.875C>T

Surrounding Variants

1 paper

NM_024923.4

p.P290P

c.870G>A

1 paper

NM_024923.4

p.S288G

c.862A>G

8 papers

NM_024923.4

p.A297T

c.889G>A

1 paper

NM_024923.4

p.Q286R

c.857A>G

1 paper

NM_024923.4

p.D279H

c.835G>C

1 paper

NM_024923.4

p.S308L

c.923C>T

1 paper

NM_024923.4

p.S275Y

c.824C>A

1 paper

NM_024923.4

p.E273Splc

c.818-3C>T

2 papers

NM_024923.4

p.H324R

c.971A>G

1 paper

NM_024923.4

p.L360_E361delFs

c.1079_1083del5

1 paper

NM_024923.4

p.I370I

c.1110C>T

1 paper

NM_024923.4

p.S377R

c.1129A>C