Varaico: Literature-Extracted Genetic Variants

Gene:NEU2
Variant:p.Q65*

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
2 papers
NM_005383.2
p.Q65*
c.193C>T
Surrounding Variants
1 paper
NM_005383.2
p.D60N
c.178G>A
1 paper
NM_005383.2
p.L54L
c.162G>A
1 paper
NM_005383.2
p.L51V
c.151C>G
7 papers
NM_005383.2
p.R41Q
c.122G>A
1 paper
NM_005383.2
p.Y27S
c.80A>C
1 paper
NM_005383.2
p.S11R
c.33C>A
1 paper
NM_005383.2
p.S11R
c.33C>G
1 paper
NM_005383.2
p.S11R
c.31A>C
1 paper
NM_005383.2
p.M1I
c.3G>A
2 papers
NM_005383.2
p.A70G
c.209C>G
1 paper
NM_005383.2
p.V73V
c.219G>A
1 paper
NM_005383.2
p.Q76*
c.226C>T
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