Varaico: Literature-Extracted Genetic Variants

ALG2

125 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dol...

Pfam Domains

Glyco_transf_4aa 26–205UCSCGlycosyltransferase Family 4

Glycos_transf_1aa 212–393UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

ALG2 alpha-1,3/1,6-mannosyltransferase

HGNC Alias Symbols

CDGIi; FLJ14511; hALPG2; NET38; CDG1I

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033087.4

p.E30Q

c.88G>C

Surrounding Variants

1 paper

NM_033087.4

p.E30fs

c.88_89fs

1 paper

NM_033087.4

p.G28D

c.83G>A

1 paper

NM_033087.4

p.G27R

c.79G>C

1 paper

NM_033087.4

p.V33M

c.97G>A

1 paper

NM_033087.4

p.L24_G25delFs

c.72_75del4

1 paper

NM_033087.4

p.G25delFs

c.74delC

1 paper

NM_033087.4

p.G25fs

c.73_74fs

1 paper

NM_033087.4

p.P22S

c.64C>T

1 paper

NM_033087.4

p.E30_L38delFs

c.89_114del26

1 paper

NM_033087.4

p.L40L

c.120G>A

1 paper

NM_033087.4

p.P15L

c.44C>T

1 paper

NM_033087.4

p.S11L

c.32C>T