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

3 papers

NM_033087.4

p.R251L

c.752G>T

Surrounding Variants

2 papers

NM_033087.4

p.R251C

c.751C>T

1 paper

NM_033087.4

p.L254L

c.760T>C

1 paper

NM_033087.4

p.L240V

c.718C>G

1 paper

NM_033087.4

p.N239T

c.716A>C

1 paper

NM_033087.4

p.R273fs

c.817_818fs

1 paper

NM_033087.4

p.R273_V274delFs

c.819_820delCT

1 paper

NM_033087.4

p.L275P

c.824T>C

1 paper

NM_033087.4

p.K285N

c.855G>C

1 paper

NM_033087.4

p.Q289R

c.866A>G

1 paper

NM_033087.4

p.Q295H

c.885G>T

1 paper

NM_033087.4

p.Q295H

c.885G>C

1 paper

NM_033087.4

p.T206I

c.617C>T