Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.L250Q

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.L250Q
c.749T>A
Surrounding Variants
2 papers
NM_005787.6
p.L251P
c.752T>C
1 paper
NM_005787.6
p.R260C
c.778C>T
1 paper
NM_005787.6
p.S261T
c.781T>A
1 paper
NM_005787.6
p.L264F
c.790C>T
8 papers
NM_005787.6
p.R266C
c.796C>T
1 paper
NM_005787.6
p.Q267K
c.799C>A
1 paper
NM_005787.6
p.R277P
c.830G>C
2 papers
NM_005787.6
p.A282V
c.845C>T
1 paper
NM_005787.6
p.R287*
c.859C>T
1 paper
NM_005787.6
p.A292_L293del2
c.874_878del6
1 paper
NM_005787.6
p.F304S
c.911T>C
2 papers
NM_005787.6
p.A305D
c.914C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."