Varaico: Literature-Extracted Genetic Variants

Gene:TCN1
Variant:p.Y433S

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
3 papers
NM_001062.4
p.Y433S
c.1298A>C
Surrounding Variants
1 paper
NM_001062.4
p.Y433*
c.1299C>G
1 paper
NM_001062.4
p.Y433*
c.1299C>A
1 paper
NM_001062.4
p.S431S
c.1293C>T
1 paper
NM_001062.4
p.R429P
c.1286G>C
1 paper
NM_001062.4
p.N425K
c.1275C>G
1 paper
NM_001062.4
p.N425K
c.1275C>A
1 paper
NM_001062.4
p.L405P
c.1214T>C
1 paper
NM_001062.4
p.Y401C
c.1202A>G
1 paper
NM_001062.4
p.C393R
c.1177T>C
1 paper
NM_001062.4
p.Q390K
c.1168C>A
1 paper
NM_001062.4
p.C388Y
c.1163G>A
1 paper
NM_001062.4
p.M377T
c.1130T>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."