Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.T195I

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.T195I
c.584C>T
Surrounding Variants
2 papers
NM_000355.4
p.M198T
c.593T>C
2 papers
NM_000355.4
p.D194Splc
c.581-8A>T
1 paper
NM_000355.4
p.C205S
c.613T>A
1 paper
NM_000355.4
p.C205Y
c.614G>A
1 paper
NM_000355.4
p.C205S
c.614G>C
1 paper
NM_000355.4
p.R208H
c.623G>A
1 paper
NM_000355.4
p.G214S
c.640G>A
1 paper
NM_000355.4
p.G214R
c.640G>C
5 papers
NM_000355.4
p.R215W
c.643C>T
1 paper
NM_000355.4
p.R216K
c.647G>A
1 paper
NM_000355.4
p.R218W
c.652C>T
1 paper
NM_000355.4
p.I219L
c.655A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."