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

Selected Variant

1 paper

NM_016161.3

p.S150T

c.448T>A

Surrounding Variants

2 papers

NM_016161.3

p.A141T

c.421G>A

1 paper

NM_016161.3

p.S140S

c.420C>T

1 paper

NM_016161.3

p.G162D

c.485G>A

1 paper

NM_016161.3

p.G163D

c.488G>A

1 paper

NM_016161.3

p.M166T

c.497T>C

1 paper

NM_016161.3

p.D169N

c.505G>A

1 paper

NM_016161.3

p.L182L

c.544T>C

2 papers

NM_016161.3

p.A184V

c.551C>T

1 paper

NM_016161.3

p.R188Q

c.563G>A

1 paper

NM_016161.3

p.G196G

c.588G>A

1 paper

NM_016161.3

p.H200D

c.598C>G

1 paper

NM_016161.3

p.E209K

c.625G>A