Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.N174S

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
Selected Variant
3 papers
NM_005787.6
p.N174S
c.521A>G
Surrounding Variants
1 paper
NM_005787.6
p.D175A
c.524A>C
3 papers
NM_005787.6
p.R171L
c.512G>T
15 papers
NM_005787.6
p.R171Q
c.512G>A
4 papers
NM_005787.6
p.R171W
c.511C>T
1 paper
NM_005787.6
p.V164delFs
c.490delC
4 papers
NM_005787.6
p.R163C
c.487C>T
4 papers
NM_005787.6
p.L188_L189del1
c.564_566delAGG
3 papers
NM_005787.6
p.L190del1
c.568_569delCAG
8 papers
NM_005787.6
p.M157K
c.470T>A
2 papers
NM_005787.6
p.R193H
c.578G>A
1 paper
NM_005787.6
p.G195V
c.584G>T
1 paper
NM_005787.6
p.V153I
c.457G>A
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