Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.Y242_G243del1

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.Y242_G243del1
c.725_727delCGT
Surrounding Variants
18 papers
NM_000434.4
p.G243R
c.727G>C
19 papers
NM_000434.4
p.G243R
c.727G>A
2 papers
NM_000434.4
p.Y242Y
c.726C>T
1 paper
NM_000434.4
p.Y242*
c.726C>G
1 paper
NM_000434.4
p.Y242*
c.726C>A
2 papers
NM_000434.4
p.W240*
c.720G>A
2 papers
NM_000434.4
p.W240*
c.719G>A
8 papers
NM_000434.4
p.W240R
c.718T>C
7 papers
NM_000434.4
p.W240R
c.718T>A
1 paper
NM_000434.4
p.S239F
c.716C>T
8 papers
NM_000434.4
p.G248C
c.742G>T
1 paper
NM_000434.4
p.G248S
c.742G>A
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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."