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.V254A

c.761T>C

Surrounding Variants

1 paper

NM_001004127.3

p.L268I

c.802C>A

6 papers

NM_001004127.3

p.Y279S

c.836A>C

1 paper

NM_001004127.3

p.A221G

c.662C>G

2 papers

NM_001004127.3

p.S208fs

c.622_623fs

5 papers

NM_001004127.3

p.S208_N214delFs

c.623_642del20

1 paper

NM_001004127.3

p.S208_N214del7

c.622_641del21

1 paper

NM_001004127.3

p.S208delFs

c.623_624delCT

1 paper

NM_001004127.3

p.P200S

c.598C>T

1 paper

NM_001004127.3

p.P311L

c.932C>T

2 papers

NM_001004127.3

p.E312A

c.935A>C

2 papers

NM_001004127.3

p.E312G

c.935A>G

7 papers

NM_001004127.3

p.Q318P

c.953A>C