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

7 papers

NM_001004127.3

p.Q318P

c.953A>C

Surrounding Variants

2 papers

NM_001004127.3

p.E312A

c.935A>C

2 papers

NM_001004127.3

p.E312G

c.935A>G

1 paper

NM_001004127.3

p.L325_V331del7

c.973_992del21

1 paper

NM_001004127.3

p.P311L

c.932C>T

3 papers

NM_001004127.3

p.K329_M330del1

c.986_988delAGA

1 paper

NM_001004127.3

p.C345Y

c.1034G>A

1 paper

NM_001004127.3

p.R353S

c.1059G>C

1 paper

NM_001004127.3

p.R353S

c.1059G>T

6 papers

NM_001004127.3

p.Y279S

c.836A>C

1 paper

NM_001004127.3

p.D363A

c.1088A>C

1 paper

NM_001004127.3

p.L268I

c.802C>A

4 papers

NM_001004127.3

p.N375_I376delFs

c.1123_1126del4