Varaico: Literature-Extracted Genetic Variants

Gene:GCNT1
Variant:p.S364F

GCNT1

35 papers

RefSeq Summary

This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. Th...

Pfam Domains

Branchaa 123–392UCSCCore-2/I-Branching enzyme

Gene Aliases

HGNC Name

glucosaminyl (N-acetyl) transferase 1

HGNC Previous Symbol

NACGT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001490.5
p.S364F
c.1091C>T
Surrounding Variants
1 paper
NM_001490.5
p.P368L
c.1103C>T
1 paper
NM_001490.5
p.P333L
c.998C>T
1 paper
NM_001490.5
p.T315S
c.943A>T
1 paper
NM_001490.5
p.W311*
c.933G>A
1 paper
NM_001490.5
p.W311*
c.932G>A
1 paper
NM_001490.5
p.M309I
c.927G>A
1 paper
NM_001490.5
p.M309I
c.927G>C
1 paper
NM_001490.5
p.M309I
c.927G>T
1 paper
NM_001490.5
p.K307R
c.920A>G
1 paper
NM_001490.5
p.K307M
c.920A>T
1 paper
NM_001490.5
p.L423M
c.1267T>A
1 paper
NM_001490.5
p.*429C
c.1287A>C
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