Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.L91R

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
9 papers
NM_000434.4
p.L91R
c.272T>G
Surrounding Variants
1 paper
NM_000434.4
p.L90F
c.268C>T
4 papers
NM_000434.4
p.G88A
c.263G>C
1 paper
NM_000434.4
p.P86A
c.256C>G
1 paper
NM_000434.4
p.I82T
c.245T>C
1 paper
NM_000434.4
p.S100F
c.299C>T
1 paper
NM_000434.4
p.S100delFs
c.300delG
1 paper
NM_000434.4
p.S101fs
c.301_302fs
20 papers
NM_000434.4
p.P80L
c.239C>T
2 papers
NM_000434.4
p.P80T
c.238C>A
3 papers
NM_000434.4
p.R78C
c.232C>T
1 paper
NM_000434.4
p.G105G
c.315G>A
1 paper
NM_000434.4
p.K107R
c.320A>G
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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."