Varaico: Literature-Extracted Genetic Variants

Gene:NEU2
Variant:p.R172G

NEU2

56 papers

RefSeq Summary

This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a funct...

Pfam Domains

BNR_2aa 32–345UCSCBNR repeat-like domain

Gene Aliases

HGNC Name

neuraminidase 2

HGNC Alias Symbol

SIAL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005383.2
p.R172G
c.514C>G
Surrounding Variants
3 papers
NM_005383.2
p.H168N
c.502C>A
1 paper
NM_005383.2
p.Y179F
c.536A>T
1 paper
NM_005383.2
p.Y181F
c.542A>T
1 paper
NM_005383.2
p.G162A
c.485G>C
1 paper
NM_005383.2
p.W154*
c.462G>A
1 paper
NM_005383.2
p.W154*
c.461G>A
2 papers
NM_005383.2
p.Y151Y
c.453C>T
1 paper
NM_005383.2
p.C196*
c.588C>A
1 paper
NM_005383.2
p.R204C
c.610C>T
1 paper
NM_005383.2
p.P139P
c.417C>T
1 paper
NM_005383.2
p.W206*
c.617G>A
1 paper
NM_005383.2
p.W206*
c.618G>A
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