Varaico: Literature-Extracted Genetic Variants

Gene:NUP42
Variant:p.L105P

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
Selected Variant
1 paper
NM_007342.3
p.L105P
c.314T>C
Surrounding Variants
1 paper
NM_007342.3
p.P107_D108ins12
c.319_323ins36
1 paper
NM_007342.3
p.E109D
c.327G>C
1 paper
NM_007342.3
p.E109D
c.327G>T
1 paper
NM_007342.3
p.D112A
c.335A>C
1 paper
NM_007342.3
p.G96G
c.288A>T
2 papers
NM_007342.3
p.E93_G94ins12
c.277_281ins36
1 paper
NM_007342.3
p.F80Y
c.239T>A
1 paper
NM_007342.3
p.G71fs
c.211_212fs
1 paper
NM_007342.3
p.W69insFs
c.206dupG
1 paper
NM_007342.3
p.W69fs
c.205_206fs
1 paper
NM_007342.3
p.G119*
c.355G>T
1 paper
NM_007342.3
p.D123H
c.367G>C
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