Varaico: Literature-Extracted Genetic Variants

Gene:TCN1
Variant:p.A101V

TCN1

178 papers

RefSeq Summary

This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a...

Pfam Domains

Cobalamin_bindaa 8–329UCSCEukaryotic cobalamin-binding protein
DUF4430aa 355–432UCSCDomain of unknown function (DUF4430)

Gene Aliases

HGNC Name

transcobalamin 1

HGNC Alias Symbols

TCI; TC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001062.4
p.A101V
c.302C>T
Surrounding Variants
2 papers
NM_001062.4
p.R106C
c.316C>T
1 paper
NM_001062.4
p.A108T
c.322G>A
1 paper
NM_001062.4
p.S92S
c.276G>T
1 paper
NM_001062.4
p.S92S
c.276G>A
1 paper
NM_001062.4
p.E110A
c.329A>C
1 paper
NM_001062.4
p.S91insFs
c.271dupA
1 paper
NM_001062.4
p.N111I
c.332A>T
1 paper
NM_001062.4
p.L112I
c.334T>A
1 paper
NM_001062.4
p.V90E
c.269T>A
1 paper
NM_001062.4
p.L118L
c.354G>A
2 papers
NM_001062.4
p.K121N
c.363G>T
1 paper
NM_001062.4
p.K121N
c.363G>C
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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."