Varaico: Literature-Extracted Genetic Variants

Gene:NEU2
Variant:p.A320G

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.A320G
c.959C>G
Surrounding Variants
1 paper
NM_005383.2
p.P316L
c.947C>T
1 paper
NM_005383.2
p.P316S
c.946C>T
1 paper
NM_005383.2
p.Y334F
c.1001A>T
1 paper
NM_005383.2
p.S335T
c.1003T>A
1 paper
NM_005383.2
p.L337P
c.1010T>C
1 paper
NM_005383.2
p.Q338H
c.1014G>C
1 paper
NM_005383.2
p.Q338H
c.1014G>T
1 paper
NM_005383.2
p.L294I
c.880C>A
1 paper
NM_005383.2
p.P286A
c.856C>G
1 paper
NM_005383.2
p.D358A
c.1073A>C
1 paper
NM_005383.2
p.P280S
c.838C>T
1 paper
NM_005383.2
p.M366del1
c.1096_1097delATG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."