Varaico: Literature-Extracted Genetic Variants

Gene:TCN1
Variant:p.E260A

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.E260A
c.779A>C
Surrounding Variants
1 paper
NM_001062.4
p.D256E
c.768C>A
1 paper
NM_001062.4
p.D256N
c.766G>A
1 paper
NM_001062.4
p.S254A
c.760T>G
1 paper
NM_001062.4
p.S254P
c.760T>C
1 paper
NM_001062.4
p.V253V
c.759A>T
1 paper
NM_001062.4
p.V253A
c.758T>C
1 paper
NM_001062.4
p.V272L
c.814G>T
1 paper
NM_001062.4
p.G279G
c.837A>G
2 papers
NM_001062.4
p.S282S
c.846C>T
1 paper
NM_001062.4
p.A287T
c.859G>A
1 paper
NM_001062.4
p.P292fs
c.874_875fs
1 paper
NM_001062.4
p.P292delFs
c.875delG
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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."