Varaico: Literature-Extracted Genetic Variants

Gene:NEU2
Variant:p.E266*

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.E266*
c.796G>T
Surrounding Variants
1 paper
NM_005383.2
p.V265E
c.794T>A
1 paper
NM_005383.2
p.Q270*
c.808C>T
1 paper
NM_005383.2
p.G252E
c.755G>A
1 paper
NM_005383.2
p.P280S
c.838C>T
1 paper
NM_005383.2
p.D251D
c.753C>T
1 paper
NM_005383.2
p.P286A
c.856C>G
1 paper
NM_005383.2
p.R241*
c.721C>T
1 paper
NM_005383.2
p.L294I
c.880C>A
1 paper
NM_005383.2
p.A236T
c.706G>A
1 paper
NM_005383.2
p.G227R
c.679G>A
1 paper
NM_005383.2
p.G227R
c.679G>C
1 paper
NM_005383.2
p.E218A
c.653A>C
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