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.A179T

c.535G>A

Surrounding Variants

1 paper

NM_001004127.3

p.G177A

c.530G>C

2 papers

NM_001004127.3

p.I188delFs

c.563_564delTA

1 paper

NM_001004127.3

p.I188T

c.563T>C

5 papers

NM_001004127.3

p.G160V

c.479G>T

1 paper

NM_001004127.3

p.G160S

c.478G>A

2 papers

NM_001004127.3

p.L159P

c.476T>C

1 paper

NM_001004127.3

p.P200S

c.598C>T

1 paper

NM_001004127.3

p.S208delFs

c.623_624delCT

5 papers

NM_001004127.3

p.S208_N214delFs

c.623_642del20

1 paper

NM_001004127.3

p.S208_N214del7

c.622_641del21

2 papers

NM_001004127.3

p.S208fs

c.622_623fs

1 paper

NM_001004127.3

p.A221G

c.662C>G