Varaico: Literature-Extracted Genetic Variants

Gene:NUP58
Variant:p.G192E

NUP58

43 papers

RefSeq Summary

This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore comp...

Pfam Domains

Nucleoporin_FG2aa 1–599UCSCNucleoporin FG repeated region
Nucleoporin_FG2aa 478–566UCSCNucleoporin FG repeated region

Gene Aliases

HGNC Name

nucleoporin 58

HGNC Previous Symbol

NUPL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_014089.4
p.G192E
c.575G>A
Surrounding Variants
4 papers
NM_014089.4
p.G192E
c.575G>A
1 paper
NM_014089.4
p.L182F
c.544C>T
1 paper
NM_014089.4
p.G180D
c.539G>A
1 paper
NM_014089.4
p.L178*
c.533T>A
1 paper
NM_014089.4
p.A174G
c.521C>G
1 paper
NM_014089.4
p.T162S
c.485C>G
1 paper
NM_014089.4
p.T162A
c.484A>G
1 paper
NM_014089.4
p.T159P
c.475A>C
1 paper
NM_014089.4
p.T159S
c.475A>T
1 paper
NM_014089.4
p.T129A
c.385A>G
1 paper
NM_014089.4
p.G111V
c.332G>T
1 paper
NM_014089.4
p.T97M
c.290C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."