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

5 papers

NM_033087.4

p.S11P

c.31T>C

Surrounding Variants

1 paper

NM_033087.4

p.S11L

c.32C>T

1 paper

NM_033087.4

p.D10E

c.30C>G

1 paper

NM_033087.4

p.S11*

c.32C>A

1 paper

NM_033087.4

p.D10E

c.30C>A

1 paper

NM_033087.4

p.D10H

c.28G>C

1 paper

NM_033087.4

p.P15L

c.44C>T

5 papers

NM_033087.4

p.G6A

c.17G>C

1 paper

NM_033087.4

p.E4V

c.11A>T

1 paper

NM_033087.4

p.A2delins

c.5delinsTCTG

1 paper

NM_033087.4

p.A2S

c.4G>T

1 paper

NM_033087.4

p.M1L

c.1A>T

1 paper

NM_033087.4

p.M1V

c.1A>G