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

1 paper

NM_001004127.3

p.K92N

c.276G>T

Surrounding Variants

1 paper

NM_001004127.3

p.K92N

c.276G>C

1 paper

NM_001004127.3

p.R87K

c.260G>A

7 papers

NM_001004127.3

p.L86S

c.257T>C

2 papers

NM_001004127.3

p.L86V

c.256T>G

3 papers

NM_001004127.3

p.A85V

c.254C>T

1 paper

NM_001004127.3

p.N73S

c.218A>G

1 paper

NM_001004127.3

p.P70_C72delFs

c.208_214del7

1 paper

NM_001004127.3

p.G59G

c.177G>A

1 paper

NM_001004127.3

p.T55A

c.163A>G

3 papers

NM_001004127.3

p.S54L

c.161C>T

1 paper

NM_001004127.3

p.K50R

c.149A>G

2 papers

NM_001004127.3

p.L46P

c.137T>C