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.E1101K

c.3301G>A

Surrounding Variants

1 paper

NM_024923.4

p.G1103S

c.3307G>A

1 paper

NM_024923.4

p.Q1107*

c.3319C>T

1 paper

NM_024923.4

p.E1117D

c.3351G>T

1 paper

NM_024923.4

p.E1117D

c.3351G>C

1 paper

NM_024923.4

p.V1119I

c.3355G>A

1 paper

NM_024923.4

p.A1124S

c.3370G>T

1 paper

NM_024923.4

p.G1134A

c.3401G>C

4 papers

NM_024923.4

p.G1136S

c.3406G>A

1 paper

NM_024923.4

p.T1149T

c.3447C>T

1 paper

NM_024923.4

p.P1079_L1083del5

c.3235_3248del15

2 papers

NM_024923.4

p.G1065V

c.3194G>T

1 paper

NM_024923.4

p.G1052S

c.3154G>A