Varaico: Literature-Extracted Genetic Variants

Gene:NUP210
Variant:p.L1562L

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.L1562L
c.4686C>A
Surrounding Variants
1 paper
NM_024923.4
p.R1560C
c.4678C>T
1 paper
NM_024923.4
p.T1567T
c.4701C>A
1 paper
NM_024923.4
p.A1572T
c.4714G>A
1 paper
NM_024923.4
p.V1581M
c.4741G>A
1 paper
NM_024923.4
p.G1590G
c.4770C>T
1 paper
NM_024923.4
p.E1591*
c.4771G>T
1 paper
NM_024923.4
p.V1630M
c.4888G>A
1 paper
NM_024923.4
p.S1670F
c.5009C>T
1 paper
NM_024923.4
p.E1679E
c.5037G>A
1 paper
NM_024923.4
p.A1683A
c.5049C>T
1 paper
NM_024923.4
p.E1719A
c.5156A>C
1 paper
NM_024923.4
p.R1528W
c.4582C>T
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