Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.E209fs

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.E209fs
c.625_626fs
Surrounding Variants
10 papers
NM_000434.4
p.E209delFs
c.625delC
1 paper
NM_000434.4
p.R208Q
c.623G>A
1 paper
NM_000434.4
p.R208W
c.622C>T
1 paper
NM_000434.4
p.P210A
c.628C>G
1 paper
NM_000434.4
p.K206_Q207delFs
c.618_619delGT
10 papers
NM_000434.4
p.P210L
c.629C>T
9 papers
NM_000434.4
p.Q207*
c.619C>T
1 paper
NM_000434.4
p.R214C
c.640C>T
3 papers
NM_000434.4
p.L215P
c.644T>C
1 paper
NM_000434.4
p.I216I
c.648C>T
25 papers
NM_000434.4
p.V217M
c.649G>A
2 papers
NM_000434.4
p.V217A
c.650T>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."