Varaico: Literature-Extracted Genetic Variants

Gene:TCN1
Variant:p.R2R

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.R2R
c.6A>G
Surrounding Variants
1 paper
NM_001062.4
p.Q3E
c.7C>G
2 papers
NM_001062.4
p.Q3R
c.8A>G
1 paper
NM_001062.4
p.M1I
c.3G>T
1 paper
NM_001062.4
p.M1R
c.2T>G
1 paper
NM_001062.4
p.S4S
c.12A>G
2 papers
NM_001062.4
p.P8H
c.23C>A
1 paper
NM_001062.4
p.L13F
c.39A>T
1 paper
NM_001062.4
p.F15L
c.45T>A
1 paper
NM_001062.4
p.L22L
c.66A>G
1 paper
NM_001062.4
p.C23Y
c.68G>A
2 papers
NM_001062.4
p.C23*
c.69C>A
1 paper
NM_001062.4
p.E24Q
c.70G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."