Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.Y80F

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.Y80F
c.239A>T
Surrounding Variants
3 papers
NM_000355.4
p.Q81*
c.241C>T
1 paper
NM_000355.4
p.Q82insFs
c.245dupA
1 paper
NM_000355.4
p.Q82*
c.244C>T
1 paper
NM_000355.4
p.L78F
c.232C>T
5 papers
NM_000355.4
p.K77M
c.230A>T
1 paper
NM_000355.4
p.L76F
c.226C>T
3 papers
NM_000355.4
p.L85Q
c.254T>A
3 papers
NM_000355.4
p.G86E
c.257G>A
3 papers
NM_000355.4
p.S62N
c.185G>A
1 paper
NM_000355.4
p.L58L
c.172C>T
3 papers
NM_000355.4
p.L58fs
c.172_173fs
1 paper
NM_000355.4
p.G57D
c.170G>A
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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."