Varaico: Literature-Extracted Genetic Variants

Gene:ALG10
Variant:p.S280R

ALG10

45 papers

RefSeq Summary

This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose...

Pfam Domains

DIE2_ALG10aa 31–427UCSCDIE2/ALG10 family

Gene Aliases

HGNC Name

ALG10 alpha-1,2-glucosyltransferase

HGNC Alias Symbols

FLJ14751; DIE2; ALG10A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032834.4
p.S280R
c.840T>G
Surrounding Variants
1 paper
NM_032834.4
p.A284G
c.851C>G
1 paper
NM_032834.4
p.S296fs
c.886_887fs
1 paper
NM_032834.4
p.S296L
c.887C>T
1 paper
NM_032834.4
p.L299F
c.895C>T
1 paper
NM_032834.4
p.L299L
c.897C>T
1 paper
NM_032834.4
p.L318*
c.953T>A
1 paper
NM_032834.4
p.S241Y
c.722C>A
1 paper
NM_032834.4
p.F327insFs
c.981dupT
1 paper
NM_032834.4
p.V328fs
c.982_983fs
1 paper
NM_032834.4
p.T330N
c.989C>A
1 paper
NM_032834.4
p.S333F
c.998C>T
1 paper
NM_032834.4
p.G225G
c.675A>G
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