Varaico: Literature-Extracted Genetic Variants

MGAT4B

28 papers

RefSeq Summary

This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzy...

Pfam Domains

MGAT4_consaa 110–387UCSCMGAT4 conserved region

MGAT4A_Caa 401–541UCSCMGAT4 C-terminal domain

Gene Aliases

HGNC Name

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B

HGNC Alias Symbol

GnT-Ivb

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014275.5

p.T187I

c.560C>T

Surrounding Variants

1 paper

NM_014275.5

p.H220N

c.658C>A

1 paper

NM_014275.5

p.H220fs

c.658_659fs

1 paper

NM_014275.5

p.K175M

c.524A>T

2 papers

NM_014275.5

p.P172L

c.515C>T

1 paper

NM_014275.5

p.R227C

c.679C>T

2 papers

NM_014275.5

p.R152W

c.454C>T

1 paper

NM_014275.5

p.T140I

c.419C>T

1 paper

NM_014275.5

p.V135M

c.403G>A

1 paper

NM_014275.5

p.E95G

c.284A>G

1 paper

NM_014275.5

p.Y263Y

c.789C>T

1 paper

NM_014275.5

p.R88P

c.263G>C

1 paper

NM_014275.5

p.D83D

c.249C>T