Varaico: Literature-Extracted Genetic Variants

Gene:NUP58
Variant:p.Y360_R361delFs

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
1 paper
NM_014089.4
p.Y360_R361delFs
c.1079_1083del5
Surrounding Variants
1 paper
NM_014089.4
p.V355I
c.1063G>A
1 paper
NM_014089.4
p.E354Q
c.1060G>C
1 paper
NM_014089.4
p.I380V
c.1138A>G
1 paper
NM_014089.4
p.A388S
c.1162G>T
1 paper
NM_014089.4
p.E408A
c.1223A>C
1 paper
NM_014089.4
p.A343P
c.1027G>C
1 paper
NM_014089.4
p.E433E
c.1299A>G
1 paper
NM_014089.4
p.W442delFs
c.1326delG
1 paper
NM_014089.4
p.T445I
c.1334C>T
1 paper
NM_014089.4
p.T445T
c.1335A>G
1 paper
NM_014089.4
p.L247L
c.739C>T
1 paper
NM_014089.4
p.S229fs
c.685_686fs
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