Varaico: Literature-Extracted Genetic Variants

Gene:NUP58
Variant:p.A34T

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
3 papers
NM_014089.4
p.A34T
c.100G>A
Surrounding Variants
1 paper
NM_014089.4
p.V27I
c.79G>A
1 paper
NM_014089.4
p.G10R
c.28G>A
1 paper
NM_014089.4
p.G10R
c.28G>C
1 paper
NM_014089.4
p.F7F
c.21C>T
1 paper
NM_014089.4
p.A54A
c.162A>G
1 paper
NM_014089.4
p.S57F
c.170C>T
1 paper
NM_014089.4
p.T65N
c.194C>A
2 papers
NM_014089.4
p.K71N
c.213A>C
2 papers
NM_014089.4
p.K71N
c.213A>T
1 paper
NM_014089.4
p.T81S
c.241A>T
1 paper
NM_014089.4
p.G84Splc
c.251-118C>T
1 paper
NM_014089.4
p.T87_I89del0
c.260_265del6
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."