Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.P39delFs

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.P39delFs
c.116delG
Surrounding Variants
6 papers
NM_005787.6
p.P39L
c.116C>T
1 paper
NM_005787.6
p.P39fs
c.115_116fs
1 paper
NM_005787.6
p.E38Q
c.112G>C
1 paper
NM_005787.6
p.L34P
c.101T>C
1 paper
NM_005787.6
p.L34L
c.100C>T
1 paper
NM_005787.6
p.R33S
c.97C>A
1 paper
NM_005787.6
p.L49F
c.145C>T
1 paper
NM_005787.6
p.W24_R27delFs
c.71_81del11
1 paper
NM_005787.6
p.L51P
c.152T>C
1 paper
NM_005787.6
p.E53K
c.157G>A
1 paper
NM_005787.6
p.Q26*
c.76C>T
1 paper
NM_005787.6
p.V54fs
c.160_161fs
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