Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.F157V

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.F157V
c.469T>G
Surrounding Variants
6 papers
NM_001011551.3
p.E152K
c.454G>A
4 papers
NM_001011551.3
p.A143V
c.428C>T
1 paper
NM_001011551.3
p.K132_Y133delFs
c.395_398del4
14 papers
NM_001011551.3
p.D131E
c.393T>G
16 papers
NM_001011551.3
p.D131E
c.393T>A
2 papers
NM_001011551.3
p.E184E
c.552A>G
1 paper
NM_001011551.3
p.A125S
c.373G>T
1 paper
NM_001011551.3
p.V191I
c.571G>A
2 papers
NM_001011551.3
p.S193P
c.577T>C
1 paper
NM_001011551.3
p.R196*
c.586A>T
1 paper
NM_001011551.3
p.N202T
c.605A>C
1 paper
NM_001011551.3
p.P208L
c.623C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."