Varaico: Literature-Extracted Genetic Variants

A4GNT

41 papers

RefSeq Summary

This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalph...

Pfam Domains

Gly_transf_sugaa 64–188UCSCGlycosyltransferase sugar-binding region containing DXD motif

Gb3_synthaa 196–323UCSCAlpha 1,4-glycosyltransferase conserved region

Gene Aliases

HGNC Name

alpha-1,4-N-acetylglucosaminyltransferase

HGNC Alias Symbol

alpha4GnT

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

4 papers

NM_016161.3

p.R266*

c.796C>T

2 papers

NM_016161.3

p.P95L

c.284C>T

2 papers

NM_016161.3

p.A141T

c.421G>A

2 papers

NM_016161.3

p.A184V

c.551C>T

2 papers

NM_016161.3

p.A218D

c.653C>A

1 paper

NM_016161.3

p.R2W

c.4C>T

1 paper

NM_016161.3

p.R2R

c.6G>T

1 paper

NM_016161.3

p.E4K

c.10G>A

1 paper

NM_016161.3

p.H39N

c.115C>A

1 paper

NM_016161.3

p.H39P

c.116A>C

1 paper

NM_016161.3

p.V71I

c.211G>A

1 paper

NM_016161.3

p.P82H

c.245C>A