Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.R294C

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
14 papers
NM_000434.4
p.R294C
c.880C>T
Surrounding Variants
15 papers
NM_000434.4
p.R294S
c.880C>A
2 papers
NM_000434.4
p.Y296C
c.887A>G
2 papers
NM_000434.4
p.I291T
c.872T>C
3 papers
NM_000434.4
p.R290Q
c.869G>A
1 paper
NM_000434.4
p.R290*
c.868C>T
14 papers
NM_000434.4
p.A298V
c.893C>T
1 paper
NM_000434.4
p.A298A
c.894C>T
1 paper
NM_000434.4
p.H286H
c.858C>T
1 paper
NM_000434.4
p.H286Y
c.856C>T
1 paper
NM_000434.4
p.L302V
c.904C>G
1 paper
NM_000434.4
p.L302P
c.905T>C
1 paper
NM_000434.4
p.R305fs
c.913_914fs
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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."