Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.L98delFs

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.L98delFs
c.292_293delAG
Surrounding Variants
2 papers
NM_005787.6
p.V99Splc
c.296+4A>G
7 papers
NM_005787.6
p.G96R
c.286G>C
7 papers
NM_005787.6
p.G96R
c.286G>A
1 paper
NM_005787.6
p.Y88*
c.264T>G
1 paper
NM_005787.6
p.Y88*
c.264T>A
1 paper
NM_005787.6
p.W71_V81del11
c.211_242del33
1 paper
NM_005787.6
p.A76delFs
c.228delG
1 paper
NM_005787.6
p.Y74Y
c.222C>T
2 papers
NM_005787.6
p.Y74C
c.221A>G
9 papers
NM_005787.6
p.W71R
c.211T>C
8 papers
NM_005787.6
p.W71R
c.211T>A
5 papers
NM_005787.6
p.I69T
c.206T>C
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