Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.S67delFs

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.S67delFs
c.200delC
Surrounding Variants
11 papers
NM_000434.4
p.S67I
c.200G>T
1 paper
NM_000434.4
p.G68R
c.202G>C
1 paper
NM_000434.4
p.G68R
c.202G>A
5 papers
NM_000434.4
p.G68V
c.203G>T
1 paper
NM_000434.4
p.S67fs
c.199_200fs
1 paper
NM_000434.4
p.W65*
c.195G>A
1 paper
NM_000434.4
p.W65*
c.194G>A
1 paper
NM_000434.4
p.W65fs
c.193_194fs
1 paper
NM_000434.4
p.L64_W65insFs
c.192_193ins22
1 paper
NM_000434.4
p.Q62*
c.184C>T
1 paper
NM_000434.4
p.S73*
c.218C>A
1 paper
NM_000434.4
p.M60V
c.178A>G
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