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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP58

Variant:p.T533A

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr13:25338698 A>G

NM_014089.4

p.T533A

c.1597A>G

Nucleoporin_FG2

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=3, hom=0)4 overlapping SVs

Surrounding Variants

1 paper

chr13:25338725 A>T

NM_014089.4

p.S542C

c.1624A>T

Nucleoporin_FG2

exact variant not in gnomAD4 overlapping SVs

1 paper

chr13:25340083 A>G

NM_014089.4

p.Q583Q

c.1749A>G

Nucleoporin_FG2

Exome: 0.4% (AC=6499, hom=184)Genome: 0.5% (AC=793, hom=32)4 overlapping SVs

1 paper

chr13:25336996 G>T

NM_014089.4

p.G499V

c.1496G>T

Nucleoporin_FG2

exact variant not in gnomAD4 overlapping SVs

1 paper

chr13:25331458 A>G

NM_014089.4

p.T445T

c.1335A>G

Nucleoporin_FG2

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=0, hom=0)4 overlapping SVs

1 paper

chr13:25331457 C>T

NM_014089.4

p.T445I

c.1334C>T

Nucleoporin_FG2

exact variant not in gnomAD4 overlapping SVs

1 paper

chr13:25331447 TG>T

NM_014089.4

p.W442delFs

c.1326delG

Nucleoporin_FG2

exact variant not in gnomAD4 overlapping SVs

1 paper

chr13:25331422 A>G

NM_014089.4

p.E433E

c.1299A>G

Nucleoporin_FG2

exact variant not in gnomAD4 overlapping SVs

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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."