Varaico: Literature-Extracted Genetic Variants

Gene:ALG5
Variant:p.R141C

ALG5

40 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucos...

Pfam Domains

Glycos_transf_2aa 68–250UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

ALG5 dolichyl-phosphate beta-glucosyltransferase

HGNC Alias Symbol

bA421P11.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013338.5
p.R141C
c.421C>T
Surrounding Variants
1 paper
NM_013338.5
p.R141H
c.422G>A
1 paper
NM_013338.5
p.K139N
c.417G>T
1 paper
NM_013338.5
p.K139N
c.417G>C
1 paper
NM_013338.5
p.C124R
c.370T>C
1 paper
NM_013338.5
p.M149_G150Splc
c.447+1786A>T
1 paper
NM_013338.5
p.R155Q
c.464G>A
1 paper
NM_013338.5
p.K178R
c.533A>G
2 papers
NM_013338.5
p.V107I
c.319G>A
1 paper
NM_013338.5
p.A100V
c.299C>T
1 paper
NM_013338.5
p.V82M
c.244G>A
1 paper
NM_013338.5
p.L80Splc
c.239-28T>C
4 papers
NM_013338.5
p.R79W
c.235C>T
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