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

1–12 of 190 variants

9 papers

NM_024923.4

p.R786L

c.2357G>T

8 papers

NM_024923.4

p.A297T

c.889G>A

4 papers

NM_024923.4

p.I608V

c.1822A>G

4 papers

NM_024923.4

p.G1136S

c.3406G>A

4 papers

NM_024923.4

p.R1173C

c.3517C>T

4 papers

NM_024923.4

p.L1752S

c.5255T>C

4 papers

NM_024923.4

p.V1787M

c.5359G>A

3 papers

NM_024923.4

p.P733T

c.2197C>A

3 papers

NM_024923.4

p.A755V

c.2264C>T

3 papers

NM_024923.4

p.P821A

c.2461C>G

2 papers

NM_024923.4

p.A225P

c.673G>C

2 papers

NM_024923.4

p.D250D

c.750C>T