Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1
Variant:p.M207T

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.M207T
c.620T>C
Surrounding Variants
1 paper
NM_020156.5
p.G209G
c.627A>T
2 papers
NM_020156.5
p.K203K
c.609G>A
2 papers
NM_020156.5
p.G212R
c.634G>C
1 paper
NM_020156.5
p.P191S
c.571C>T
2 papers
NM_020156.5
p.S184S
c.552A>G
1 paper
NM_020156.5
p.I238fs
c.712_713fs
1 paper
NM_020156.5
p.I238fs
c.712_713fs
2 papers
NM_020156.5
p.I238_G244delFs
c.714_730del17
1 paper
NM_020156.5
p.D240A
c.719A>C
1 paper
NM_020156.5
p.D171N
c.511G>A
1 paper
NM_020156.5
p.E248K
c.742G>A
1 paper
NM_020156.5
p.I249S
c.746T>G
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