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.F517L

c.1551C>G

Surrounding Variants

1 paper

NM_002410.5

p.F517L

c.1551C>A

1 paper

NM_002410.5

p.F517L

c.1549T>C

1 paper

NM_002410.5

p.E520A

c.1559A>C

1 paper

NM_002410.5

p.P522L

c.1565C>T

1 paper

NM_002410.5

p.E526A

c.1577A>C

1 paper

NM_002410.5

p.N540S

c.1619A>G

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.E559fs

c.1675_1676fs

1 paper

NM_002410.5

p.E508*

c.1522G>T

1 paper

NM_002410.5

p.T478A

c.1432A>G

1 paper

NM_002410.5

p.P565T

c.1693C>A