Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.N186T

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.N186T
c.557A>C
Surrounding Variants
1 paper
NM_000434.4
p.N186S
c.557A>G
1 paper
NM_000434.4
p.P184S
c.550C>T
1 paper
NM_000434.4
p.S182R
c.546C>G
1 paper
NM_000434.4
p.S182R
c.546C>A
1 paper
NM_000434.4
p.K175_W181del0
c.523_543del21
36 papers
NM_000434.4
p.S182G
c.544A>G
1 paper
NM_000434.4
p.S182R
c.544A>C
1 paper
NM_000434.4
p.V179A
c.536T>C
3 papers
NM_000434.4
p.D177V
c.530A>T
2 papers
NM_000434.4
p.D176G
c.527A>G
1 paper
NM_000434.4
p.P198P
c.594T>C
1 paper
NM_000434.4
p.G199R
c.595G>C
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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."