Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.A298A

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.A298A
c.894C>T
Surrounding Variants
14 papers
NM_000434.4
p.A298V
c.893C>T
2 papers
NM_000434.4
p.Y296C
c.887A>G
1 paper
NM_000434.4
p.L302V
c.904C>G
1 paper
NM_000434.4
p.L302P
c.905T>C
14 papers
NM_000434.4
p.R294C
c.880C>T
15 papers
NM_000434.4
p.R294S
c.880C>A
1 paper
NM_000434.4
p.R305fs
c.913_914fs
12 papers
NM_000434.4
p.R305C
c.913C>T
2 papers
NM_000434.4
p.R305L
c.914G>T
3 papers
NM_000434.4
p.R305P
c.914G>C
8 papers
NM_000434.4
p.R305H
c.914G>A
1 paper
NM_000434.4
p.R305delFs
c.913delG
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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."