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

5 papers

NM_001004127.3

p.R468H

c.1403G>A

Surrounding Variants

2 papers

NM_001004127.3

p.R468C

c.1402C>T

1 paper

NM_001004127.3

p.K459R

c.1376A>G

1 paper

NM_001004127.3

p.S456F

c.1367C>T

1 paper

NM_001004127.3

p.A450T

c.1348G>A

1 paper

NM_001004127.3

p.E442K

c.1324G>A

3 papers

NM_001004127.3

p.G436V

c.1307G>T

2 papers

NM_001004127.3

p.G432*

c.1294G>T

2 papers

NM_001004127.3

p.P422L

c.1265C>T

6 papers

NM_001004127.3

p.I414N

c.1241T>A

2 papers

NM_001004127.3

p.M408R

c.1223T>G

1 paper

NM_001004127.3

p.E398A

c.1193A>C

6 papers

NM_001004127.3

p.E398K

c.1192G>A