Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1
Variant:p.N66S

C1GALT1

46 papers

RefSeq Summary

The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended ...

Pfam Domains

Fringeaa 83–282UCSCFringe-like

Gene Aliases

HGNC Name

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

HGNC Alias Symbol

T-synthase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020156.5
p.N66S
c.197A>G
Surrounding Variants
1 paper
NM_020156.5
p.S51S
c.153A>C
1 paper
NM_020156.5
p.L22I
c.64T>A
1 paper
NM_020156.5
p.A104S
c.310G>T
1 paper
NM_020156.5
p.R114H
c.341G>A
1 paper
NM_020156.5
p.N116fs
c.346_347fs
1 paper
NM_020156.5
p.N116_F120delFs
c.348_360del13
1 paper
NM_020156.5
p.V118insFs
c.353_354insC
2 papers
NM_020156.5
p.S122N
c.365G>A
1 paper
NM_020156.5
p.A131A
c.393T>A
1 paper
NM_020156.5
p.D171N
c.511G>A
2 papers
NM_020156.5
p.S184S
c.552A>G
1 paper
NM_020156.5
p.P191S
c.571C>T
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