Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.S233R

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
8 papers
NM_000434.4
p.S233R
c.699C>G
Surrounding Variants
1 paper
NM_000434.4
p.S233S
c.699C>T
9 papers
NM_000434.4
p.S233R
c.699C>A
11 papers
NM_000434.4
p.D234N
c.700G>A
8 papers
NM_000434.4
p.S233R
c.697A>C
10 papers
NM_000434.4
p.L231H
c.692T>A
2 papers
NM_000434.4
p.C230*
c.690T>A
2 papers
NM_000434.4
p.C230Y
c.689G>A
1 paper
NM_000434.4
p.F229I
c.685T>A
1 paper
NM_000434.4
p.A238V
c.713C>T
1 paper
NM_000434.4
p.A238A
c.714C>G
1 paper
NM_000434.4
p.V228A
c.683T>C
1 paper
NM_000434.4
p.S239F
c.716C>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."