Varaico: Literature-Extracted Genetic Variants

Gene:NEU1

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
1–12 of 277 variants
36 papers
NM_000434.4
p.S182G
c.544A>G
35 papers
NM_000434.4
p.G227R
c.679G>A
33 papers
NM_000434.4
p.G227R
c.679G>C
25 papers
NM_000434.4
p.V217M
c.649G>A
20 papers
NM_000434.4
p.P80L
c.239C>T
19 papers
NM_000434.4
p.G243R
c.727G>A
19 papers
NM_000434.4
p.G328S
c.982G>A
18 papers
NM_000434.4
p.G243R
c.727G>C
17 papers
NM_000434.4
p.V54M
c.160G>A
15 papers
NM_000434.4
p.R294S
c.880C>A
14 papers
NM_000434.4
p.D135N
c.403G>A
14 papers
NM_000434.4
p.L270F
c.808C>T
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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."