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

4 papers

NM_024923.4

p.V1787M

c.5359G>A

Surrounding Variants

1 paper

NM_024923.4

p.R1790H

c.5369G>A

4 papers

NM_024923.4

p.L1752S

c.5255T>C

1 paper

NM_024923.4

p.V1751I

c.5251G>A

2 papers

NM_024923.4

p.P1742R

c.5225C>G

1 paper

NM_024923.4

p.E1722_V1723Splc

c.5167-10T>A

1 paper

NM_024923.4

p.A1822G

c.5465C>G

1 paper

NM_024923.4

p.Y1855Splc

c.5563+9C>G

1 paper

NM_024923.4

p.E1719A

c.5156A>C

1 paper

NM_024923.4

p.A1683A

c.5049C>T

1 paper

NM_024923.4

p.E1679E

c.5037G>A

1 paper

NM_024923.4

p.S1670F

c.5009C>T

1 paper

NM_024923.4

p.A1858V

c.5573C>T