Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.D132N

NEU1

198 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heter...

Pfam Domains

BNR_2aa 88–382UCSCBNR repeat-like domain

Gene Aliases

HGNC Name

neuraminidase 1

HGNC Previous Names

sialidase 1 (lysosomal sialidase); neuraminidase 1 (lysosomal sialidase)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000434.4
p.D132N
c.394G>A
Surrounding Variants
1 paper
NM_000434.4
p.D130D
c.390T>C
1 paper
NM_000434.4
p.P134P
c.402C>T
14 papers
NM_000434.4
p.D135N
c.403G>A
5 papers
NM_000434.4
p.G136E
c.407G>A
2 papers
NM_000434.4
p.G136G
c.408G>A
1 paper
NM_000434.4
p.A141fs
c.421_422fs
1 paper
NM_000434.4
p.A141insFs
c.421dupG
1 paper
NM_000434.4
p.W121*
c.363G>A
1 paper
NM_000434.4
p.W121*
c.362G>A
2 papers
NM_000434.4
p.V143E
c.428T>A
1 paper
NM_000434.4
p.V142_V143delFs
c.425_428del4
1 paper
NM_000434.4
p.V142_V143delFs
c.424_428del5
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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."