Varaico: Literature-Extracted Genetic Variants

Gene:TCN1
Variant:p.E31D

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.E31D
c.93A>T
Surrounding Variants
1 paper
NM_001062.4
p.E31G
c.92A>G
2 papers
NM_001062.4
p.R35C
c.103C>T
2 papers
NM_001062.4
p.R35H
c.104G>A
1 paper
NM_001062.4
p.L36L
c.106C>T
2 papers
NM_001062.4
p.E27G
c.80A>G
1 paper
NM_001062.4
p.E27Splc
c.80-1G>A
1 paper
NM_001062.4
p.L36L
c.108A>T
1 paper
NM_001062.4
p.P38P
c.114T>A
1 paper
NM_001062.4
p.Q45*
c.133C>T
1 paper
NM_001062.4
p.S46L
c.137C>T
2 papers
NM_001062.4
p.R50G
c.148A>G
1 paper
NM_001062.4
p.R50K
c.149G>A
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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."