Varaico: Literature-Extracted Genetic Variants

Gene:ALG2

ALG2

125 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dol...

Pfam Domains

Glyco_transf_4aa 26–205UCSCGlycosyltransferase Family 4
Glycos_transf_1aa 212–393UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

ALG2 alpha-1,3/1,6-mannosyltransferase

HGNC Alias Symbols

CDGIi; FLJ14511; hALPG2; NET38; CDG1I

Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
12 papers
NM_033087.4
p.V68G
c.203T>G
5 papers
NM_033087.4
p.G6A
c.17G>C
5 papers
NM_033087.4
p.S11P
c.31T>C
5 papers
NM_033087.4
p.G72_P76delins
c.214_226delinsAGTCCCCGGC
5 papers
NM_033087.4
p.K131N
c.393G>T
4 papers
NM_033087.4
p.G347delFs
c.1040delC
4 papers
NM_033087.4
p.V367A
c.1100T>C
3 papers
NM_033087.4
p.P56L
c.167C>T
3 papers
NM_033087.4
p.I159V
c.475A>G
3 papers
NM_033087.4
p.R251L
c.752G>T
3 papers
NM_033087.4
p.G347fs
c.1039_1040fs
2 papers
NM_033087.4
p.D73H
c.217G>C
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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."