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

1–12 of 38 variants

2 papers

NM_014275.5

p.R152W

c.454C>T

2 papers

NM_014275.5

p.P172L

c.515C>T

2 papers

NM_014275.5

p.T187I

c.560C>T

2 papers

NM_014275.5

p.R437C

c.1309C>T

2 papers

NM_014275.5

p.R452C

c.1354C>T

1 paper

NM_014275.5

p.R2_L3insFs

c.6_7ins16

1 paper

NM_014275.5

p.W24C

c.72G>T

1 paper

NM_014275.5

p.W24C

c.72G>C

1 paper

NM_014275.5

p.Y25C

c.74A>G

1 paper

NM_014275.5

p.A27V

c.80C>T

1 paper

NM_014275.5

p.K59R

c.176A>G

1 paper

NM_014275.5

p.D83D

c.249C>T