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

Selected Variant

1 paper

NM_012214.3

p.K401E

c.1201A>G

Surrounding Variants

1 paper

NM_012214.3

p.W419G

c.1255T>G

1 paper

NM_012214.3

p.S357S

c.1071C>T

1 paper

NM_012214.3

p.R353H

c.1058G>A

1 paper

NM_012214.3

p.R353C

c.1057C>T

1 paper

NM_012214.3

p.P465S

c.1393C>T

1 paper

NM_012214.3

p.I312L

c.934A>T

1 paper

NM_012214.3

p.I312L

c.934A>C

1 paper

NM_012214.3

p.I308T

c.923T>C

1 paper

NM_012214.3

p.P303L

c.908C>T

1 paper

NM_012214.3

p.R481*

c.1441C>T

1 paper

NM_012214.3

p.N275fs

c.823_824fs

1 paper

NM_012214.3

p.I273T

c.818T>C