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

4 papers

NM_033087.4

p.G347delFs

c.1040delC

Surrounding Variants

3 papers

NM_033087.4

p.G347fs

c.1039_1040fs

1 paper

NM_033087.4

p.S352fs

c.1054_1055fs

1 paper

NM_033087.4

p.S352Fs

c.1055_1056delinsTGAFs

1 paper

NM_033087.4

p.M337Fs

c.1011delinsTAAGGFs

1 paper

NM_033087.4

p.V330I

c.988G>A

2 papers

NM_033087.4

p.P366L

c.1097C>T

4 papers

NM_033087.4

p.V367A

c.1100T>C

1 paper

NM_033087.4

p.S323_N324insT

c.967_971ins3

1 paper

NM_033087.4

p.P322T

c.964C>A

1 paper

NM_033087.4

p.V318E

c.953T>A

1 paper

NM_033087.4

p.I377V

c.1129A>G

2 papers

NM_033087.4

p.R378C

c.1132C>T