Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.T143N

TNNI3

805 papers

RefSeq Summary

Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blockin...

Pfam Domains

Troponin-I_Naa 1–31UCSCTroponin I residues 1-32
Troponinaa 46–177UCSCTroponin

Gene Aliases

HGNC Name

troponin I3, cardiac type

HGNC Previous Symbol

CMD2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_000363.5
p.T143N
c.428C>A
Surrounding Variants
2 papers
NM_000363.5
p.T143A
c.427A>G
1 paper
NM_000363.5
p.L144L
c.430C>T
1 paper
NM_000363.5
p.L144R
c.431T>G
9 papers
NM_000363.5
p.L144P
c.431T>C
33 papers
NM_000363.5
p.L144Q
c.431T>A
1 paper
NM_000363.5
p.P142L
c.425C>T
114 papers
NM_000363.5
p.R145W
c.433C>T
121 papers
NM_000363.5
p.R145G
c.433C>G
2 papers
NM_000363.5
p.R141P
c.422G>C
76 papers
NM_000363.5
p.R145Q
c.434G>A
53 papers
NM_000363.5
p.R141Q
c.422G>A
19 papers
NM_000363.5
p.R141W
c.421C>T
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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."