Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.P101A

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
1 paper
NM_005787.6
p.P101A
c.301C>G
Surrounding Variants
3 papers
NM_005787.6
p.I107V
c.319A>G
1 paper
NM_005787.6
p.M109V
c.325A>G
1 paper
NM_005787.6
p.F108insFs
c.323_324insT
1 paper
NM_005787.6
p.Y112*
c.336C>G
6 papers
NM_005787.6
p.R117P
c.350G>C
11 papers
NM_005787.6
p.G118D
c.353G>A
1 paper
NM_005787.6
p.R122H
c.365G>A
1 paper
NM_005787.6
p.A124T
c.370G>A
2 papers
NM_005787.6
p.Y132C
c.395A>G
2 papers
NM_005787.6
p.V99Splc
c.296+4A>G
1 paper
NM_005787.6
p.L98delFs
c.292_293delAG
1 paper
NM_005787.6
p.L137ins3
c.410_411ins9
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