Varaico: Literature-Extracted Genetic Variants

Gene:NEU2
Variant:p.V73V

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.V73V
c.219G>A
Surrounding Variants
1 paper
NM_005383.2
p.Q76*
c.226C>T
1 paper
NM_005383.2
p.Q76L
c.227A>T
2 papers
NM_005383.2
p.A70G
c.209C>G
2 papers
NM_005383.2
p.A77A
c.231C>T
1 paper
NM_005383.2
p.G81S
c.241G>A
1 paper
NM_005383.2
p.A93T
c.277G>A
1 paper
NM_005383.2
p.G107R
c.319G>A
1 paper
NM_005383.2
p.G107R
c.319G>C
1 paper
NM_005383.2
p.E111A
c.332A>C
2 papers
NM_005383.2
p.H132N
c.394C>A
1 paper
NM_005383.2
p.W136*
c.407G>A
1 paper
NM_005383.2
p.P139P
c.417C>T
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