Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3

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
1–12 of 446 variants
121 papers
NM_000363.5
p.R145G
c.433C>G
114 papers
NM_000363.5
p.R145W
c.433C>T
91 papers
NM_000363.5
p.R162W
c.484C>T
80 papers
NM_000363.5
p.R192H
c.575G>A
78 papers
NM_000363.5
p.G203S
c.607G>A
76 papers
NM_000363.5
p.R145Q
c.434G>A
68 papers
NM_000363.5
p.R162Q
c.485G>A
57 papers
NM_000363.5
p.A157V
c.470C>T
53 papers
NM_000363.5
p.R141Q
c.422G>A
52 papers
NM_000363.5
p.R186Q
c.557G>A
50 papers
NM_000363.5
p.K206Q
c.616A>C
47 papers
NM_000363.5
p.K178E
c.532A>G
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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."