Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.L135P

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
3 papers
NM_000363.5
p.L135P
c.404T>C
Surrounding Variants
1 paper
NM_000363.5
p.L135F
c.403C>T
3 papers
NM_000363.5
p.R136*
c.406C>T
24 papers
NM_000363.5
p.R136Q
c.407G>A
1 paper
NM_000363.5
p.D134H
c.400G>C
1 paper
NM_000363.5
p.G137D
c.410G>A
1 paper
NM_000363.5
p.I132T
c.395T>C
3 papers
NM_000363.5
p.K131_I132del1
c.392_394delTCT
1 paper
NM_000363.5
p.F139C
c.416T>G
1 paper
NM_000363.5
p.K131M
c.392A>T
1 paper
NM_000363.5
p.Q130H
c.390G>T
1 paper
NM_000363.5
p.Q130H
c.390G>C
8 papers
NM_000363.5
p.Q130R
c.389A>G
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