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.R452C

c.1354C>T

Surrounding Variants

1 paper

NM_014275.5

p.R452R

c.1356C>G

1 paper

NM_014275.5

p.F464fs

c.1390_1391fs

1 paper

NM_014275.5

p.F464delFs

c.1392delG

1 paper

NM_014275.5

p.E469D

c.1407G>T

1 paper

NM_014275.5

p.E469D

c.1407G>C

1 paper

NM_014275.5

p.Q484H

c.1452G>T

1 paper

NM_014275.5

p.D498N

c.1492G>A

1 paper

NM_014275.5

p.A524T

c.1570G>A

1 paper

NM_014275.5

p.P443T

c.1327C>A

2 papers

NM_014275.5

p.R437C

c.1309C>T

1 paper

NM_014275.5

p.L539V

c.1615C>G

1 paper

NM_014275.5

p.R393W

c.1177C>T