Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.D116G

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.D116G
c.347A>G
Surrounding Variants
1 paper
NM_000434.4
p.S114_M115del2
c.340_344del6
3 papers
NM_000434.4
p.G118Splc
c.352+1G>A
4 papers
NM_000434.4
p.G105_G118del0
c.314_352del39
1 paper
NM_000434.4
p.G118Splc
c.352+3A>G
1 paper
NM_000434.4
p.R112G
c.334C>G
6 papers
NM_000434.4
p.L111P
c.332T>C
1 paper
NM_000434.4
p.K107R
c.320A>G
1 paper
NM_000434.4
p.G105G
c.315G>A
1 paper
NM_000434.4
p.S100delFs
c.300delG
1 paper
NM_000434.4
p.S101fs
c.301_302fs
1 paper
NM_000434.4
p.S100F
c.299C>T
9 papers
NM_000434.4
p.L91R
c.272T>G
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