Varaico: Literature-Extracted Genetic Variants

Gene:TNNT3
Variant:p.H241Splc

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
2 papers
NM_006757.4
p.H241Splc
c.723-2A>G
Surrounding Variants
1 paper
NM_006757.4
p.G246A
c.737G>C
1 paper
NM_006757.4
p.P248S
c.742C>T
1 paper
NM_006757.4
p.S233N
c.698G>A
10 papers
NM_006757.4
p.D227_I228Splc
c.681+1G>A
1 paper
NM_006757.4
p.Q224*
c.670C>T
1 paper
NM_006757.4
p.R223C
c.667C>T
1 paper
NM_006757.4
p.E211*
c.631G>T
1 paper
NM_006757.4
p.R197S
c.591G>T
1 paper
NM_006757.4
p.P185S
c.553C>T
1 paper
NM_006757.4
p.K177*
c.529A>T
1 paper
NM_006757.4
p.K175N
c.525G>C
1 paper
NM_006757.4
p.K175N
c.525G>T
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