Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.A75_V76delFs

ALG12

129 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide p...

Pfam Domains

Glyco_transf_22aa 15–407UCSCAlg9-like mannosyltransferase family

Gene Aliases

HGNC Name

ALG12 alpha-1,6-mannosyltransferase

HGNC Alias Symbols

ECM39; CDG1G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024105.4
p.A75_V76delFs
c.224_227del4
Surrounding Variants
1 paper
NM_024105.4
p.V76V
c.228G>C
2 papers
NM_024105.4
p.A75T
c.223G>A
1 paper
NM_024105.4
p.S78F
c.233C>T
1 paper
NM_024105.4
p.I74T
c.221T>C
4 papers
NM_024105.4
p.A81T
c.241G>A
1 paper
NM_024105.4
p.G70R
c.208G>A
11 papers
NM_024105.4
p.T67M
c.200C>T
1 paper
NM_024105.4
p.V64V
c.192C>G
1 paper
NM_024105.4
p.V64insFs
c.191dupT
1 paper
NM_024105.4
p.G62R
c.184G>C
1 paper
NM_024105.4
p.G62R
c.184G>A
1 paper
NM_024105.4
p.S91F
c.272C>T
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