Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.F142V

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
9 papers
NM_024105.4
p.F142V
c.424T>G
Surrounding Variants
1 paper
NM_024105.4
p.F138S
c.413T>C
1 paper
NM_024105.4
p.F138ins1
c.412_413insCGT
16 papers
NM_024105.4
p.R146Q
c.437G>A
1 paper
NM_024105.4
p.Q137E
c.409C>G
1 paper
NM_024105.4
p.L148P
c.443T>C
1 paper
NM_024105.4
p.T134M
c.401C>T
1 paper
NM_024105.4
p.N150S
c.449A>G
1 paper
NM_024105.4
p.C131R
c.391T>C
1 paper
NM_024105.4
p.V157Splc
c.469+5G>A
4 papers
NM_024105.4
p.G123R
c.367G>C
4 papers
NM_024105.4
p.G123R
c.367G>A
1 paper
NM_024105.4
p.F122F
c.366C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."