Varaico: Literature-Extracted Genetic Variants

Gene:GCNT1
Variant:p.C217S

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.C217S
c.650G>C
Surrounding Variants
1 paper
NM_001490.5
p.C217S
c.649T>A
1 paper
NM_001490.5
p.N215_L216insG
c.643_647ins3
1 paper
NM_001490.5
p.L213F
c.639G>C
1 paper
NM_001490.5
p.L213F
c.639G>T
1 paper
NM_001490.5
p.W210*
c.630G>A
1 paper
NM_001490.5
p.W210C
c.630G>C
1 paper
NM_001490.5
p.W210C
c.630G>T
1 paper
NM_001490.5
p.W210*
c.629G>A
1 paper
NM_001490.5
p.T225I
c.674C>T
1 paper
NM_001490.5
p.R181*
c.541C>T
1 paper
NM_001490.5
p.V261V
c.783C>G
1 paper
NM_001490.5
p.A170T
c.508G>A
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