Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.L406F

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.L406F
c.1218G>T
Surrounding Variants
1 paper
NM_000355.4
p.G408Splc
c.1222+2T>C
11 papers
NM_000355.4
p.R399Q
c.1196G>A
8 papers
NM_000355.4
p.R399*
c.1195C>T
1 paper
NM_000355.4
p.L398L
c.1194C>T
1 paper
NM_000355.4
p.L398I
c.1192C>A
1 paper
NM_000355.4
p.G390A
c.1169G>C
2 papers
NM_000355.4
p.A388V
c.1163C>T
1 paper
NM_000355.4
p.G386A
c.1157G>C
2 papers
NM_000355.4
p.Y380*
c.1140C>A
2 papers
NM_000355.4
p.Y380*
c.1140C>G
3 papers
NM_000355.4
p.Y380insFs
c.1139dupA
1 paper
NM_000355.4
p.Y380fs
c.1138_1139fs
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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."