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.L1019P

c.3056T>C

Surrounding Variants

1 paper

NM_024923.4

p.F1016_M1017insFs

c.3048_3049insC

1 paper

NM_024923.4

p.F1016F

c.3048T>C

1 paper

NM_024923.4

p.V1001M

c.3001G>A

1 paper

NM_024923.4

p.Y998H

c.2992T>C

1 paper

NM_024923.4

p.G1052S

c.3154G>A

2 papers

NM_024923.4

p.G1065V

c.3194G>T

1 paper

NM_024923.4

p.R984H

c.2951G>A

2 papers

NM_024923.4

p.A971G

c.2912C>G

2 papers

NM_024923.4

p.V964A

c.2891T>C

1 paper

NM_024923.4

p.V946V

c.2838G>A

1 paper

NM_024923.4

p.P1079_L1083del5

c.3235_3248del15

1 paper

NM_024923.4

p.E1101K

c.3301G>A