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.G72_P76delins

c.214_226delinsAGTCCCCGGC

Surrounding Variants

1 paper

NM_033087.4

p.P76delins

c.226delinsAGTCCCCGGC

1 paper

NM_033087.4

p.G72_L75delFs

c.214_224del11

1 paper

NM_033087.4

p.G72_L75del4

c.214_224del12

1 paper

NM_033087.4

p.R77Q

c.230G>A

2 papers

NM_033087.4

p.D73H

c.217G>C

1 paper

NM_033087.4

p.A71V

c.212C>T

2 papers

NM_033087.4

p.G80D

c.239G>A

1 paper

NM_033087.4

p.C70Y

c.209G>A

12 papers

NM_033087.4

p.V68G

c.203T>G

1 paper

NM_033087.4

p.R84C

c.250C>T

1 paper

NM_033087.4

p.E62G

c.185A>G

1 paper

NM_033087.4

p.Y91H

c.271T>C