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

2 papers

NM_002410.5

p.E297A

c.890A>C

Surrounding Variants

1 paper

NM_002410.5

p.D303N

c.907G>A

1 paper

NM_002410.5

p.T288K

c.863C>A

1 paper

NM_002410.5

p.T288R

c.863C>G

1 paper

NM_002410.5

p.E287A

c.860A>C

1 paper

NM_002410.5

p.G312V

c.935G>T

2 papers

NM_002410.5

p.E280A

c.839A>C

1 paper

NM_002410.5

p.R335Q

c.1004G>A

1 paper

NM_002410.5

p.R244*

c.730C>T

1 paper

NM_002410.5

p.V354A

c.1061T>C

1 paper

NM_002410.5

p.R236W

c.706C>T

1 paper

NM_002410.5

p.P365S

c.1093C>T

1 paper

NM_002410.5

p.V368I

c.1102G>A