Varaico: Literature-Extracted Genetic Variants

Gene:ALG10
Variant:p.F418S

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.F418S
c.1253T>C
Surrounding Variants
3 papers
NM_032834.4
p.R416C
c.1246C>T
1 paper
NM_032834.4
p.E440E
c.1320A>G
1 paper
NM_032834.4
p.S442I
c.1325G>T
1 paper
NM_032834.4
p.K391fs
c.1171_1172fs
1 paper
NM_032834.4
p.A445A
c.1335A>T
1 paper
NM_032834.4
p.V446I
c.1336G>A
1 paper
NM_032834.4
p.V447I
c.1339G>A
1 paper
NM_032834.4
p.S387A
c.1159T>G
1 paper
NM_032834.4
p.P463S
c.1387C>T
1 paper
NM_032834.4
p.R361T
c.1082G>C
1 paper
NM_032834.4
p.S333F
c.998C>T
1 paper
NM_032834.4
p.T330N
c.989C>A
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