Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.Q130R

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
1 paper
NM_000355.4
p.Q130R
c.389A>G
Surrounding Variants
2 papers
NM_000355.4
p.Q130fs
c.388_389fs
2 papers
NM_000355.4
p.S129delFs
c.387delA
1 paper
NM_000355.4
p.K123R
c.368A>G
2 papers
NM_000355.4
p.A141delFs
c.423delC
1 paper
NM_000355.4
p.A141V
c.422C>T
3 papers
NM_000355.4
p.I142V
c.424A>G
1 paper
NM_000355.4
p.I142fs
c.424_425fs
1 paper
NM_000355.4
p.E117*
c.349G>T
6 papers
NM_000355.4
p.G143Splc
c.427+2T>G
1 paper
NM_000355.4
p.C116*
c.348T>A
1 paper
NM_000355.4
p.C116fs
c.346_347fs
3 papers
NM_000355.4
p.C116_E117delFs
c.348_349delTG
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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."