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.K131N

c.393G>C

Surrounding Variants

5 papers

NM_033087.4

p.K131N

c.393G>T

1 paper

NM_033087.4

p.R130Q

c.389G>A

1 paper

NM_033087.4

p.I133S

c.398T>G

2 papers

NM_033087.4

p.R129W

c.385C>T

1 paper

NM_033087.4

p.D141V

c.422A>T

1 paper

NM_033087.4

p.R153*

c.457C>T

1 paper

NM_033087.4

p.P158T

c.472C>A

3 papers

NM_033087.4

p.I159V

c.475A>G

1 paper

NM_033087.4

p.I162V

c.484A>G

1 paper

NM_033087.4

p.T166I

c.497C>T

1 paper

NM_033087.4

p.M169T

c.506T>C

1 paper

NM_033087.4

p.Q178H

c.534G>T