Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.S338fs

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.S338fs
c.1012_1013fs
Surrounding Variants
1 paper
NM_000355.4
p.S338N
c.1013G>A
2 papers
NM_000355.4
p.S338Fs
c.1013_1014delinsTAAFs
3 papers
NM_000355.4
p.L340*
c.1019T>A
1 paper
NM_000355.4
p.P341L
c.1022C>T
1 paper
NM_000355.4
p.P342A
c.1024C>G
1 paper
NM_000355.4
p.T333M
c.998C>T
1 paper
NM_000355.4
p.R344delFs
c.1031_1032delGA
1 paper
NM_000355.4
p.R344fs
c.1030_1031fs
1 paper
NM_000355.4
p.R344Fs
c.1031delinsGTAACAGAGATGGTTFs
2 papers
NM_000355.4
p.Q345*
c.1033C>T
1 paper
NM_000355.4
p.S346_I347del2
c.1036_1040del6
1 paper
NM_000355.4
p.I330fs
c.988_989fs
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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."