Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.K54N

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
2 papers
NM_001011551.3
p.K54N
c.162A>T
Surrounding Variants
1 paper
NM_001011551.3
p.K54N
c.162A>C
2 papers
NM_001011551.3
p.R68*
c.202C>T
1 paper
NM_001011551.3
p.R68L
c.203G>T
1 paper
NM_001011551.3
p.V69I
c.205G>A
1 paper
NM_001011551.3
p.H39N
c.115C>A
1 paper
NM_001011551.3
p.D79E
c.237T>G
1 paper
NM_001011551.3
p.R29R
c.87G>A
1 paper
NM_001011551.3
p.L25V
c.73C>G
1 paper
NM_001011551.3
p.E88D
c.264G>T
1 paper
NM_001011551.3
p.E88D
c.264G>C
3 papers
NM_001011551.3
p.A20D
c.59C>A
1 paper
NM_001011551.3
p.A20T
c.58G>A
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