Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.T323T

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.T323T
c.969G>A
Surrounding Variants
2 papers
NM_024105.4
p.R311fs
c.931_932fs
2 papers
NM_024105.4
p.L310_R311delFs
c.930_931delGT
6 papers
NM_024105.4
p.R311C
c.931C>T
1 paper
NM_024105.4
p.L304P
c.911T>C
1 paper
NM_024105.4
p.L304F
c.910C>T
1 paper
NM_024105.4
p.L296_M299del4
c.886_896del12
1 paper
NM_024105.4
p.G297S
c.889G>A
1 paper
NM_024105.4
p.L296Q
c.887T>A
2 papers
NM_024105.4
p.A295A
c.885A>G
1 paper
NM_024105.4
p.A290V
c.869C>T
1 paper
NM_024105.4
p.L281delFs
c.842delA
1 paper
NM_024105.4
p.P280L
c.839C>T
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