Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.S315C

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.S315C
c.943A>T
Surrounding Variants
1 paper
NM_005787.6
p.S318L
c.953C>T
1 paper
NM_005787.6
p.P323_S324insT
c.967_971ins3
1 paper
NM_005787.6
p.P329S
c.985C>T
2 papers
NM_005787.6
p.Q331*
c.991C>T
1 paper
NM_005787.6
p.V328_L333delFs
c.982_998del17
1 paper
NM_005787.6
p.R311Splc
c.932+2T>G
2 papers
NM_005787.6
p.A305D
c.914C>A
1 paper
NM_005787.6
p.F304S
c.911T>C
1 paper
NM_005787.6
p.A292_L293del2
c.874_878del6
1 paper
NM_005787.6
p.R287*
c.859C>T
2 papers
NM_005787.6
p.A282V
c.845C>T
1 paper
NM_005787.6
p.R277P
c.830G>C
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