Varaico: Literature-Extracted Genetic Variants

Gene:NUP42

NUP42

63 papers

Pfam Domains

Amo1_Naa 115–210UCSCAmo1 N-terminal domain
NUP42_Caa 391–423UCSCNUP42 C-terminal domain

Gene Aliases

HGNC Name

nucleoporin 42

HGNC Previous Symbol

NUPL2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
3 papers
NM_007342.3
p.Y174C
c.521A>G
2 papers
NM_007342.3
p.G31_R32ins4
c.93_94ins12
2 papers
NM_007342.3
p.E93_G94ins12
c.277_281ins36
2 papers
NM_007342.3
p.D391N
c.1171G>A
1 paper
NM_007342.3
p.M1T
c.2T>C
1 paper
NM_007342.3
p.R11insFs
c.31_32insT
1 paper
NM_007342.3
p.R11W
c.31C>T
1 paper
NM_007342.3
p.R13S
c.37C>A
1 paper
NM_007342.3
p.R13G
c.37C>G
1 paper
NM_007342.3
p.H22Q
c.66T>A
1 paper
NM_007342.3
p.A25V
c.74C>T
1 paper
NM_007342.3
p.A25A
c.75T>A
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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."