Varaico: Literature-Extracted Genetic Variants

Gene:NAPSA
Variant:p.R348_N349insFs

NAPSA

155 papers

RefSeq Summary

This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activ...

Pfam Domains

Aspaa 77–401UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

napsin A aspartic peptidase

HGNC Previous Symbol

NR1H2-AS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004851.3
p.R348_N349insFs
c.1044_1045insC
Surrounding Variants
1 paper
NM_004851.3
p.R352R
c.1056C>T
1 paper
NM_004851.3
p.G357C
c.1069G>T
1 paper
NM_004851.3
p.V363G
c.1088T>G
1 paper
NM_004851.3
p.L373R
c.1118T>G
1 paper
NM_004851.3
p.D386N
c.1156G>A
1 paper
NM_004851.3
p.R387P
c.1160G>C
1 paper
NM_004851.3
p.M390R
c.1169T>G
1 paper
NM_004851.3
p.A401fs
c.1201_1202fs
1 paper
NM_004851.3
p.A401delFs
c.1201_1202delGC
1 paper
NM_004851.3
p.R404H
c.1211G>A
2 papers
NM_004851.3
p.A406delFs
c.1216delC
1 paper
NM_004851.3
p.L408V
c.1222C>G
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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."