Varaico: Literature-Extracted Genetic Variants

Gene:TNNT3
Variant:p.D3V

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.D3V
c.8A>T
Surrounding Variants
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
1 paper
NM_006757.4
p.E15D
c.45A>T
1 paper
NM_006757.4
p.E18del1
c.52_53delGAA
1 paper
NM_006757.4
p.E23Splc
c.67+128G>A
1 paper
NM_006757.4
p.V25I
c.73G>A
1 paper
NM_006757.4
p.D28Splc
c.82+1G>A
1 paper
NM_006757.4
p.A30T
c.88G>A
1 paper
NM_006757.4
p.E31K
c.91G>A
1 paper
NM_006757.4
p.A34T
c.100G>A
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