Varaico: Literature-Extracted Genetic Variants

Gene:TNNT3
Variant:p.E52V

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.E52V
c.155A>T
Surrounding Variants
1 paper
NM_006757.4
p.V54L
c.160G>T
1 paper
NM_006757.4
p.I48I
c.144C>T
1 paper
NM_006757.4
p.K47_E50del0
c.140_148del9
1 paper
NM_006757.4
p.K47_P49del3
c.139_146del9
8 papers
NM_006757.4
p.R63S
c.187C>A
15 papers
NM_006757.4
p.R63C
c.187C>T
27 papers
NM_006757.4
p.R63H
c.188G>A
1 paper
NM_001042780.3
p.L63F
c.187C>T
1 paper
NM_006757.4
p.R82R
c.246G>A
1 paper
NM_006757.4
p.E88K
c.262G>A
1 paper
NM_006757.4
p.A91S
c.271G>T
1 paper
NM_006757.4
p.E97K
c.289G>A
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