Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.F139C

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
1 paper
NM_000363.5
p.F139C
c.416T>G
Surrounding Variants
19 papers
NM_000363.5
p.R141W
c.421C>T
2 papers
NM_000363.5
p.R141G
c.421C>G
2 papers
NM_000363.5
p.R141P
c.422G>C
53 papers
NM_000363.5
p.R141Q
c.422G>A
1 paper
NM_000363.5
p.G137D
c.410G>A
24 papers
NM_000363.5
p.R136Q
c.407G>A
1 paper
NM_000363.5
p.P142L
c.425C>T
3 papers
NM_000363.5
p.R136*
c.406C>T
2 papers
NM_000363.5
p.T143A
c.427A>G
3 papers
NM_000363.5
p.L135P
c.404T>C
11 papers
NM_000363.5
p.T143N
c.428C>A
1 paper
NM_000363.5
p.L135F
c.403C>T
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