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.F254L

c.762C>G

Surrounding Variants

1 paper

NM_016161.3

p.F254L

c.762C>A

1 paper

NM_016161.3

p.F254L

c.760T>C

1 paper

NM_016161.3

p.P257P

c.771C>T

1 paper

NM_016161.3

p.E243D

c.729G>T

1 paper

NM_016161.3

p.E243D

c.729G>C

4 papers

NM_016161.3

p.R266*

c.796C>T

1 paper

NM_016161.3

p.Q242fs

c.724_725fs

1 paper

NM_016161.3

p.E267K

c.799G>A

1 paper

NM_016161.3

p.W268L

c.803G>T

1 paper

NM_016161.3

p.L238P

c.713T>C

1 paper

NM_016161.3

p.V274A

c.821T>C

1 paper

NM_016161.3

p.V274V

c.822G>A