Varaico: Literature-Extracted Genetic Variants

Gene:ALG3

ALG3

137 papers

RefSeq Summary

This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene hav...

Pfam Domains

ALG3aa 47–406UCSCALG3 protein

Gene Aliases

HGNC Name

ALG3 alpha-1,3- mannosyltransferase

HGNC Alias Symbols

NOT56L; Not56; CDGS4; D16Ertd36e

Papers
RefSeq ID
Protein change
DNA change
1–12 of 156 variants
15 papers
NM_005787.6
p.R171Q
c.512G>A
14 papers
NM_005787.6
p.G55G
c.165C>T
11 papers
NM_005787.6
p.G118D
c.353G>A
9 papers
NM_005787.6
p.W71R
c.211T>C
8 papers
NM_005787.6
p.W71R
c.211T>A
8 papers
NM_005787.6
p.M157K
c.470T>A
8 papers
NM_005787.6
p.R266C
c.796C>T
7 papers
NM_005787.6
p.G96R
c.286G>C
7 papers
NM_005787.6
p.G96R
c.286G>A
6 papers
NM_005787.6
p.P39L
c.116C>T
6 papers
NM_005787.6
p.R117P
c.350G>C
5 papers
NM_005787.6
p.I69T
c.206T>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."