Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.D308_C309delFs

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
3 papers
NM_000355.4
p.D308_C309delFs
c.924_927del4
Surrounding Variants
1 paper
NM_000355.4
p.C309fs
c.925_926fs
1 paper
NM_000355.4
p.C309_A311del0
c.926_931del6
1 paper
NM_000355.4
p.C309W
c.927T>G
1 paper
NM_000355.4
p.L304R
c.911T>G
3 papers
NM_000355.4
p.R313*
c.937C>T
1 paper
NM_000355.4
p.L293Q
c.878T>A
1 paper
NM_000355.4
p.Q291*
c.871C>T
1 paper
NM_000355.4
p.Q291_L292delFs
c.872_875del4
2 papers
NM_000355.4
p.I289T
c.866T>C
1 paper
NM_000355.4
p.M288L
c.862A>C
1 paper
NM_000355.4
p.N285K
c.855T>A
1 paper
NM_000355.4
p.L278L
c.832C>T
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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."