Varaico: Literature-Extracted Genetic Variants

Gene:MGAT5
Variant:p.S184fs

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
2 papers
NM_002410.5
p.S184fs
c.550_551fs
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