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

1–12 of 75 variants

7 papers

NM_001004127.3

p.L86S

c.257T>C

7 papers

NM_001004127.3

p.Q318P

c.953A>C

7 papers

NM_001004127.3

p.L381S

c.1142T>C

6 papers

NM_001004127.3

p.Y279S

c.836A>C

6 papers

NM_001004127.3

p.E398K

c.1192G>A

6 papers

NM_001004127.3

p.I414N

c.1241T>A

5 papers

NM_001004127.3

p.G160V

c.479G>T

5 papers

NM_001004127.3

p.S208_N214delFs

c.623_642del20

5 papers

NM_001004127.3

p.R468H

c.1403G>A

4 papers

NM_001004127.3

p.K12insFs

c.36dupG

4 papers

NM_001004127.3

p.R15T

c.44G>C

4 papers

NM_001004127.3

p.R15Splc

c.45-2A>T