Varaico: Literature-Extracted Genetic Variants

MGAT5

57 papers

RefSeq Summary

The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharid...

Pfam Domains

MGT5A_Naa 3–138UCSCMGT5A-like, N-terminal

Glyco_transf_18aa 172–726UCSCGlycosyltransferase family 18

Gene Aliases

HGNC Name

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase

HGNC Alias Symbols

GNT-V; MGAT5A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002410.5

p.E610K

c.1828G>A

Surrounding Variants

1 paper

NM_002410.5

p.I599V

c.1795A>G

1 paper

NM_002410.5

p.V587I

c.1759G>A

1 paper

NM_002410.5

p.P565T

c.1693C>A