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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCN1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 112 variants

7 papers

chr11:59855905 C>A

NM_001062.4

p.D301Y

c.901G>T

Cobalamin_bind

Exome: 10.1% (AC=147509, hom=8175)Genome: 8.9% (AC=13588, hom=664)33 overlapping SVs

3 papers

chr11:59852979 T>G

NM_001062.4

p.Y433S

c.1298A>C

exact variant not in gnomAD31 overlapping SVs

2 papers

chr11:59866463 T>C

NM_001062.4

p.Q3R

c.8A>G

exact variant not in gnomAD30 overlapping SVs

2 papers

chr11:59866448 G>T

NM_001062.4

p.P8H

c.23C>A

Cobalamin_bind

exact variant not in gnomAD30 overlapping SVs

2 papers

chr11:59866402 G>T

NM_001062.4

p.C23*

c.69C>A

Cobalamin_bind

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=2, hom=0)30 overlapping SVs

2 papers

chr11:59866391 C>T

NM_001062.4

p.E27Splc

c.79+1G>A

Cobalamin_bind

exact variant not in gnomAD30 overlapping SVs

2 papers

chr11:59864086 T>C

NM_001062.4

p.E27G

c.80A>G

Cobalamin_bind

exact variant not in gnomAD30 overlapping SVs

2 papers

chr11:59864063 G>A

NM_001062.4

p.R35C

c.103C>T

Cobalamin_bind

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=5, hom=0)30 overlapping SVs

2 papers

chr11:59864062 C>T

NM_001062.4

p.R35H

c.104G>A

Cobalamin_bind

Exome: 3.8% (AC=55109, hom=1236)Genome: 3.2% (AC=4841, hom=124)30 overlapping SVs

2 papers

chr11:59864018 T>C

NM_001062.4

p.R50G

c.148A>G

Cobalamin_bind

exact variant not in gnomAD30 overlapping SVs

2 papers

chr11:59862666 G>A

NM_001062.4

p.R106C

c.316C>T

Cobalamin_bind

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

2 papers

chr11:59862619 C>A

NM_001062.4

p.K121N

c.363G>T

Cobalamin_bind

exact variant not in gnomAD30 overlapping SVs

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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."