Varaico: Literature-Extracted Genetic Variants

Gene:NUP50
Variant:p.V288A

NUP50

44 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

NUP50aa 2–67UCSCNUP50 (Nucleoporin 50 kDa)
Ran_BP1aa 347–468UCSCRanBP1 domain

Gene Aliases

HGNC Name

nucleoporin 50

HGNC Previous Symbol

NPAP60L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007172.4
p.V288A
c.863T>C
Surrounding Variants
1 paper
NM_007172.4
p.V288L
c.862G>C
1 paper
NM_007172.4
p.S301C
c.901A>T
1 paper
NM_007172.4
p.K242K
c.726A>G
1 paper
NM_007172.4
p.A216A
c.648A>G
2 papers
NM_007172.4
p.K188K
c.564A>G
2 papers
NM_007172.4
p.R168W
c.502C>T
1 paper
NM_007172.4
p.S143F
c.428C>T
1 paper
NM_007172.4
p.P140S
c.418C>T
6 papers
NM_007172.4
p.T123A
c.367A>G
1 paper
NM_007172.4
p.T122A
c.364A>G
1 paper
NM_007172.4
p.A118T
c.352G>A
1 paper
NM_007172.4
p.G114D
c.341G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."