Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.H49Y

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.H49Y
c.145C>T
Surrounding Variants
2 papers
NM_000355.4
p.E48Q
c.142G>C
1 paper
NM_000355.4
p.L47L
c.139C>T
1 paper
NM_000355.4
p.S53N
c.158G>A
1 paper
NM_000355.4
p.S53T
c.158G>C
1 paper
NM_000355.4
p.S53I
c.158G>T
1 paper
NM_000355.4
p.I54I
c.162C>T
1 paper
NM_000355.4
p.G57S
c.169G>A
1 paper
NM_000355.4
p.G57D
c.170G>A
3 papers
NM_000355.4
p.L58delFs
c.172delC
1 paper
NM_000355.4
p.P40S
c.118C>T
1 paper
NM_000355.4
p.L58L
c.172C>T
3 papers
NM_000355.4
p.L58fs
c.172_173fs
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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."