Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.D318V

C1GALT1C1

52 papers

RefSeq Summary

This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenrei...

Gene Aliases

HGNC Name

C1GALT1 specific chaperone 1

HGNC Alias Symbols

COSMC; C1GALT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001011551.3
p.D318V
c.953A>T
Surrounding Variants
2 papers
NM_001011551.3
p.V276G
c.827T>G
1 paper
NM_001011551.3
p.C226*
c.678C>A
3 papers
NM_001011551.3
p.Q222H
c.666G>T
3 papers
NM_001011551.3
p.Q222H
c.666G>C
1 paper
NM_001011551.3
p.S218T
c.652T>A
1 paper
NM_001011551.3
p.P208L
c.623C>T
1 paper
NM_001011551.3
p.N202T
c.605A>C
1 paper
NM_001011551.3
p.R196*
c.586A>T
2 papers
NM_001011551.3
p.S193P
c.577T>C
1 paper
NM_001011551.3
p.V191I
c.571G>A
2 papers
NM_001011551.3
p.E184E
c.552A>G
1 paper
NM_001011551.3
p.F157V
c.469T>G
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