Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.V330A

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.V330A
c.989T>C
Surrounding Variants
1 paper
NM_000434.4
p.I329delFs
c.986_987delAA
1 paper
NM_000434.4
p.I329fs
c.985_986fs
1 paper
NM_000434.4
p.F331delFs
c.992delA
19 papers
NM_000434.4
p.G328S
c.982G>A
1 paper
NM_000434.4
p.S327F
c.980C>T
1 paper
NM_000434.4
p.S326I
c.977G>T
8 papers
NM_000434.4
p.P335Q
c.1004C>A
1 paper
NM_000434.4
p.V317_V323del0
c.951_968del18
2 papers
NM_000434.4
p.H337R
c.1010A>G
8 papers
NM_000434.4
p.R341*
c.1021C>T
2 papers
NM_000434.4
p.R341G
c.1021C>G
1 paper
NM_000434.4
p.R341Splc
c.1021+1G>T
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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."