Varaico: Literature-Extracted Genetic Variants

Gene:ALG5
Variant:p.Q235fs

ALG5

40 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucos...

Pfam Domains

Glycos_transf_2aa 68–250UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

ALG5 dolichyl-phosphate beta-glucosyltransferase

HGNC Alias Symbol

bA421P11.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013338.5
p.Q235fs
c.703_704fs
Surrounding Variants
1 paper
NM_013338.5
p.Q235delFs
c.703_704delTG
1 paper
NM_013338.5
p.G237V
c.710G>T
1 paper
NM_013338.5
p.S252Y
c.755C>A
1 paper
NM_013338.5
p.R212H
c.635G>A
2 papers
NM_013338.5
p.R212C
c.634C>T
3 papers
NM_013338.5
p.R208H
c.623G>A
1 paper
NM_013338.5
p.R197L
c.590G>T
1 paper
NM_013338.5
p.P187_N188Splc
c.562-107C>G
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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."