Varaico: Literature-Extracted Genetic Variants

ALG11

76 papers

RefSeq Summary

This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and...

Pfam Domains

ALG11_Naa 62–269UCSCALG11 mannosyltransferase N-terminus

Glycos_transf_1aa 292–470UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

ALG11 alpha-1,2-mannosyltransferase

HGNC Alias Symbols

KIAA0266; CDG1P

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001004127.3

p.R15T

c.44G>C

Surrounding Variants

2 papers

NM_001004127.3

p.L13fs

c.37_38fs

4 papers

NM_001004127.3

p.K12insFs

c.36dupG

1 paper

NM_001004127.3

p.W8C

c.24G>C

1 paper

NM_001004127.3

p.W8C

c.24G>T

2 papers

NM_001004127.3

p.G4S

c.10G>A

4 papers

NM_001004127.3

p.R15Splc

c.45-2A>T

1 paper

NM_001004127.3

p.S19T

c.55T>A

1 paper

NM_001004127.3

p.L20fs

c.58_59fs

1 paper

NM_001004127.3

p.L20delFs

c.60delA

1 paper

NM_001004127.3

p.C32insFs

c.96dupT

1 paper

NM_001004127.3

p.V33M

c.97G>A

2 papers

NM_001004127.3

p.L46P

c.137T>C