Varaico: Literature-Extracted Genetic Variants

Gene:NUP50
Variant:p.F113L

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.F113L
c.339T>A
Surrounding Variants
1 paper
NM_007172.4
p.F113L
c.339T>G
2 papers
NM_007172.4
p.G114D
c.341G>A
1 paper
NM_007172.4
p.F113L
c.337T>C
1 paper
NM_007172.4
p.A101T
c.301G>A
3 papers
NM_007172.4
p.T95A
c.283A>G
1 paper
NM_007172.4
p.L85L
c.253T>C
1 paper
NM_007172.4
p.G82A
c.245G>C
1 paper
NM_007172.4
p.G70G
c.210A>G
1 paper
NM_007172.4
p.F58fs
c.172_173fs
1 paper
NM_007172.4
p.F58fs
c.172_173fs
1 paper
NM_007172.4
p.F58delFs
c.174delT
1 paper
NM_153645.2
p.E23_S24Splc
c.70-1G>C
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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."