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

2 papers

NM_024923.4

p.D250D

c.750C>T

Surrounding Variants

1 paper

NM_024923.4

p.L245P

c.734T>C

1 paper

NM_024923.4

p.R231C

c.691C>T

2 papers

NM_024923.4

p.A225P

c.673G>C

1 paper

NM_024923.4

p.E224D

c.672G>T

1 paper

NM_024923.4

p.E224D

c.672G>C

1 paper

NM_024923.4

p.Y192C

c.575A>G

1 paper

NM_024923.4

p.P190fs

c.568_569fs

1 paper

NM_024923.4

p.P190A

c.568C>G

1 paper

NM_024923.4

p.A176P

c.526G>C

1 paper

NM_024923.4

p.A167A

c.501G>A

1 paper

NM_024923.4

p.E158K

c.472G>A

1 paper

NM_024923.4

p.F157S

c.470T>C