Varaico: Literature-Extracted Genetic Variants

MGAT4A

31 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 103–380UCSCMGAT4 conserved region

MGAT4A_Caa 394–527UCSCMGAT4 C-terminal domain

Gene Aliases

HGNC Name

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

HGNC Alias Symbols

GnT-Iva; GnT-4a

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

3 papers

NM_012214.3

p.T236A

c.706A>G

1 paper

NM_012214.3

p.R4H

c.11G>A

1 paper

NM_012214.3

p.A36A

c.108T>A

1 paper

NM_012214.3

p.R39Q

c.116G>A

1 paper

NM_012214.3

p.R71H

c.212G>A

1 paper

NM_012214.3

p.V105L

c.313G>T

1 paper

NM_012214.3

p.V105L

c.313G>C

1 paper

NM_012214.3

p.Q127R

c.380A>G

1 paper

NM_012214.3

p.V135Splc

c.404-1059T>A

1 paper

NM_012214.3

p.E199*

c.595G>T

1 paper

NM_012214.3

p.I257F

c.769A>T

1 paper

NM_012214.3

p.I273T

c.818T>C