Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.G101R

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
8 papers
NM_024105.4
p.G101R
c.301G>C
Surrounding Variants
9 papers
NM_024105.4
p.G101R
c.301G>A
1 paper
NM_024105.4
p.V99_R100delFs
c.296_299del4
1 paper
NM_024105.4
p.V99fs
c.295_296fs
2 papers
NM_024105.4
p.V107M
c.319G>A
1 paper
NM_024105.4
p.F109L
c.325T>C
1 paper
NM_024105.4
p.F109L
c.327T>G
1 paper
NM_024105.4
p.F109L
c.327T>A
1 paper
NM_024105.4
p.T113M
c.338C>T
2 papers
NM_024105.4
p.R120Q
c.359G>A
1 paper
NM_024105.4
p.F122F
c.366C>T
4 papers
NM_024105.4
p.G123R
c.367G>C
4 papers
NM_024105.4
p.G123R
c.367G>A
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