Varaico: Literature-Extracted Genetic Variants

Gene:NEU4
Variant:p.R219C

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
Selected Variant
2 papers
NM_001167600.3
p.R219C
c.655C>T
Surrounding Variants
1 paper
NM_001167600.3
p.V215M
c.643G>A
1 paper
NM_001167600.3
p.V228M
c.682G>A
2 papers
NM_001167600.3
p.Q232*
c.694C>T
1 paper
NM_001167600.3
p.R184Q
c.551G>A
1 paper
NM_001167600.3
p.R184*
c.550C>T
1 paper
NM_001167600.3
p.R183H
c.548G>A
1 paper
NM_001167600.3
p.V181M
c.541G>A
2 papers
NM_001167600.3
p.R180C
c.538C>T
1 paper
NM_001167600.3
p.Y179F
c.536A>T
1 paper
NM_001167600.3
p.A176V
c.527C>T
1 paper
NM_001167600.3
p.R171H
c.512G>A
1 paper
NM_001167600.3
p.R171C
c.511C>T
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