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

1–12 of 67 variants

2 papers

NM_002410.5

p.S184fs

c.550_551fs

2 papers

NM_002410.5

p.L225V

c.673C>G

2 papers

NM_002410.5

p.E280A

c.839A>C

2 papers

NM_002410.5

p.E297A

c.890A>C

2 papers

NM_002410.5

p.D549E

c.1647C>A

2 papers

NM_002410.5

p.D549E

c.1647C>G

1 paper

NM_002410.5

p.G22A

c.65G>C

1 paper

NM_002410.5

p.G26A

c.77G>C

1 paper

NM_002410.5

p.R37Q

c.110G>A

1 paper

NM_002410.5

p.R47R

c.141C>T

1 paper

NM_002410.5

p.R66G

c.196A>G

1 paper

NM_002410.5

p.L89L

c.267A>G