Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.L166delFs

TCN2

270 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 plasma prote...

Pfam Domains

Cobalamin_bindaa 3–327UCSCEukaryotic cobalamin-binding protein

Gene Aliases

HGNC Name

transcobalamin 2

HGNC Alias Symbols

D22S676; D22S750; TC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000355.4
p.L166delFs
c.497_498delTC
Surrounding Variants
3 papers
NM_000355.4
p.L166fs
c.496_497fs
5 papers
NM_000355.4
p.H167_Q168del1
c.501_503delCCA
1 paper
NM_000355.4
p.L164insFs
c.491dupT
2 papers
NM_000355.4
p.H167L
c.500A>T
1 paper
NM_000355.4
p.R170W
c.508C>T
3 papers
NM_000355.4
p.R170Q
c.509G>A
1 paper
NM_000355.4
p.V171F
c.511G>T
1 paper
NM_000355.4
p.G158A
c.473G>C
3 papers
NM_000355.4
p.G158C
c.472G>T
1 paper
NM_000355.4
p.Y154C
c.461A>G
1 paper
NM_000355.4
p.D177N
c.529G>A
1 paper
NM_000355.4
p.H151R
c.452A>G
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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."