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.E398A

c.1193A>C

Surrounding Variants

6 papers

NM_001004127.3

p.E398K

c.1192G>A

2 papers

NM_001004127.3

p.M395T

c.1184T>C

1 paper

NM_001004127.3

p.S386C

c.1157C>G

7 papers

NM_001004127.3

p.L381S

c.1142T>C

2 papers

NM_001004127.3

p.N375fs

c.1123_1124fs

4 papers

NM_001004127.3

p.N375_I376delFs

c.1123_1126del4

1 paper

NM_001004127.3

p.D363A

c.1088A>C

1 paper

NM_001004127.3

p.R353S

c.1059G>C

1 paper

NM_001004127.3

p.R353S

c.1059G>T

1 paper

NM_001004127.3

p.C345Y

c.1034G>A

3 papers

NM_001004127.3

p.K329_M330del1

c.986_988delAGA

1 paper

NM_001004127.3

p.L325_V331del7

c.973_992del21