Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.A249delFs

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
2 papers
NM_000355.4
p.A249delFs
c.745delG
Surrounding Variants
2 papers
NM_000355.4
p.A249fs
c.745_746fs
1 paper
NM_000355.4
p.P247Q
c.740C>A
1 paper
NM_000355.4
p.A249delins
c.746delinsCTGG
1 paper
NM_000355.4
p.Q251L
c.752A>T
1 paper
NM_000355.4
p.Y244C
c.731A>G
1 paper
NM_000355.4
p.N242D
c.724A>G
1 paper
NM_000355.4
p.H239Y
c.715C>T
1 paper
NM_000355.4
p.E237*
c.709G>T
1 paper
NM_000355.4
p.T235N
c.704C>A
1 paper
NM_000355.4
p.T235insFs
c.704_705insA
2 papers
NM_000355.4
p.T235fs
c.703_704fs
2 papers
NM_000355.4
p.T235insFs
c.703dupA
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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."