Varaico: Literature-Extracted Genetic Variants

Gene:TNNT3
Variant:p.E130D

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
Selected Variant
1 paper
NM_006757.4
p.E130D
c.390G>C
Surrounding Variants
1 paper
NM_006757.4
p.E130D
c.390G>T
1 paper
NM_006757.4
p.D140N
c.418G>A
1 paper
NM_006757.4
p.K142N
c.426G>C
1 paper
NM_006757.4
p.K142N
c.426G>T
1 paper
NM_006757.4
p.L147M
c.439C>A
1 paper
NM_006757.4
p.L147L
c.439C>T
1 paper
NM_006757.4
p.N153insFs
c.459dupC
1 paper
NM_006757.4
p.K160_A161Splc
c.480+2T>C
1 paper
NM_006757.4
p.K160_A161Splc
c.480+5G>A
1 paper
NM_006757.4
p.K160_A161Splc
c.481-1G>A
1 paper
NM_006757.4
p.K168E
c.502A>G
3 papers
NM_006757.4
p.K175del1
c.523_524delAAG
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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."