Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.L313L

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
2 papers
NM_000434.4
p.L313L
c.939C>T
Surrounding Variants
2 papers
NM_000434.4
p.E312E
c.936G>A
1 paper
NM_000434.4
p.P316fs
c.946_947fs
13 papers
NM_000434.4
p.P316S
c.946C>T
2 papers
NM_000434.4
p.P316delFs
c.947delG
13 papers
NM_000434.4
p.D310N
c.928G>A
1 paper
NM_000434.4
p.F309L
c.927C>G
1 paper
NM_000434.4
p.F309L
c.927C>A
1 paper
NM_000434.4
p.F309L
c.925T>C
1 paper
NM_000434.4
p.V318E
c.953T>A
9 papers
NM_000434.4
p.A319V
c.956C>T
2 papers
NM_000434.4
p.R305L
c.914G>T
3 papers
NM_000434.4
p.R305P
c.914G>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."