Varaico: Literature-Extracted Genetic Variants

Gene:NUP88
Variant:p.Q597R

NUP88

62 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

Nup88aa 13–740UCSCNuclear pore component

Gene Aliases

HGNC Name

nucleoporin 88

HGNC Alias Symbol

MGC8530

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002532.6
p.Q597R
c.1790A>G
Surrounding Variants
1 paper
NM_002532.6
p.Y607H
c.1819T>C
1 paper
NM_002532.6
p.C608F
c.1823G>T
2 papers
NM_002532.6
p.D581G
c.1742A>G
1 paper
NM_002532.6
p.R612S
c.1836G>C
1 paper
NM_002532.6
p.K613del1
c.1837_1839delTTT
1 paper
NM_002532.6
p.R616W
c.1846C>T
1 paper
NM_002532.6
p.Q633_E634del1
c.1899_1901delTCT
2 papers
NM_002532.6
p.E634del1
c.1900_1901delCTC
1 paper
NM_002532.6
p.M637I
c.1911G>T
1 paper
NM_002532.6
p.M637I
c.1911G>C
1 paper
NM_002532.6
p.M637I
c.1911G>A
1 paper
NM_002532.6
p.H645Y
c.1933C>T
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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."