Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.P200L

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
5 papers
NM_000434.4
p.P200L
c.599C>T
Surrounding Variants
2 papers
NM_000434.4
p.G201D
c.602G>A
1 paper
NM_000434.4
p.G199R
c.595G>C
1 paper
NM_000434.4
p.G199R
c.595G>A
1 paper
NM_000434.4
p.P198P
c.594T>C
2 papers
NM_000434.4
p.Q205Q
c.615G>A
1 paper
NM_000434.4
p.Q205_K206Splc
c.615+1G>C
1 paper
NM_000434.4
p.G203_Q205delFs
c.608_615del8
1 paper
NM_000434.4
p.N186S
c.557A>G
1 paper
NM_000434.4
p.N186T
c.557A>C
1 paper
NM_000434.4
p.P184S
c.550C>T
1 paper
NM_000434.4
p.S182R
c.546C>G
1 paper
NM_000434.4
p.S182R
c.546C>A
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