Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.Y414*

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
4 papers
NM_024105.4
p.Y414*
c.1242C>G
Surrounding Variants
1 paper
NM_024105.4
p.Y414*
c.1242C>A
1 paper
NM_024105.4
p.D415Y
c.1243G>T
1 paper
NM_024105.4
p.D415N
c.1243G>A
1 paper
NM_024105.4
p.R413Splc
c.1239-1G>C
1 paper
NM_024105.4
p.K416delFs
c.1246_1247delTT
1 paper
NM_024105.4
p.T424I
c.1271C>T
1 paper
NM_024105.4
p.T430A
c.1288A>G
1 paper
NM_024105.4
p.P438L
c.1313C>T
1 paper
NM_024105.4
p.R449W
c.1345C>T
1 paper
NM_024105.4
p.W412_R413insCGT
c.1234_1238ins9
1 paper
NM_024105.4
p.V454V
c.1362C>T
1 paper
NM_024105.4
p.V455M
c.1363G>A
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