Varaico: Literature-Extracted Genetic Variants

Gene:TNNT3

TNNT3

95 papers

RefSeq Summary

The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is tran...

Pfam Domains

Troponinaa 1–130UCSCTroponin

Gene Aliases

HGNC Name

troponin T3, fast skeletal type

HGNC Alias Symbols

AMCD2B; DA2B; FSSV; DKFZp779M2348

Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
27 papers
NM_006757.4
p.R63H
c.188G>A
15 papers
NM_006757.4
p.R63C
c.187C>T
10 papers
NM_006757.4
p.D227_I228Splc
c.681+1G>A
8 papers
NM_006757.4
p.R63S
c.187C>A
3 papers
NM_006757.4
p.K175del1
c.523_524delAAG
2 papers
NM_006757.4
p.A104V
c.311C>T
2 papers
NM_006757.4
p.H241Splc
c.723-2A>G
1 paper
NM_006757.4
p.D3V
c.8A>T
1 paper
NM_006757.4
p.Y13*
c.39C>A
1 paper
NM_006757.4
p.Y13*
c.39C>G
1 paper
NM_006757.4
p.E16_E17del1
c.47_49delAAG
1 paper
NM_006757.4
p.E15D
c.45A>C
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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."