Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.K96E

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.K96E
c.286A>G
Surrounding Variants
1 paper
NM_001011551.3
p.H93Q
c.279C>G
1 paper
NM_001011551.3
p.H93Q
c.279C>A
3 papers
NM_001011551.3
p.T89I
c.266C>T
1 paper
NM_001011551.3
p.E88D
c.264G>T
1 paper
NM_001011551.3
p.E88D
c.264G>C
1 paper
NM_001011551.3
p.D79E
c.237T>G
1 paper
NM_001011551.3
p.V69I
c.205G>A
1 paper
NM_001011551.3
p.R68L
c.203G>T
2 papers
NM_001011551.3
p.R68*
c.202C>T
1 paper
NM_001011551.3
p.A125S
c.373G>T
14 papers
NM_001011551.3
p.D131E
c.393T>G
16 papers
NM_001011551.3
p.D131E
c.393T>A
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