Varaico: Literature-Extracted Genetic Variants

Gene:NEU4

NEU4

49 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosac...

Pfam Domains

BNR_2aa 35–279UCSCBNR repeat-like domain

Gene Aliases

HGNC Name

neuraminidase 4

HGNC Previous Names

sialidase 4; neuraminidase 4 (sialidase)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
2 papers
NM_001167600.3
p.G63R
c.187G>A
2 papers
NM_001167600.3
p.R180C
c.538C>T
2 papers
NM_001167600.3
p.R219C
c.655C>T
2 papers
NM_001167600.3
p.Q232*
c.694C>T
2 papers
NM_001167600.3
p.G301R
c.901G>A
2 papers
NM_001167600.3
p.G301R
c.901G>C
1 paper
NM_001167600.3
p.E16_P29delFs
c.46_85del40
1 paper
NM_001167600.3
p.V30fs
c.88_89fs
1 paper
NM_001167600.3
p.P32A
c.94C>G
1 paper
NM_001167600.3
p.A51T
c.151G>A
1 paper
NM_001167600.3
p.A51A
c.153C>A
1 paper
NM_001167600.3
p.G63R
c.187G>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."