Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R146S

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.R146S
c.438A>C
Surrounding Variants
2 papers
NM_000363.5
p.R146S
c.438A>T
3 papers
NM_000363.5
p.V147L
c.439G>T
3 papers
NM_000363.5
p.V147L
c.439G>C
1 paper
NM_000363.5
p.R146delFs
c.438delT
1 paper
NM_000363.5
p.V147A
c.440T>C
35 papers
NM_000363.5
p.R146G
c.436A>G
76 papers
NM_000363.5
p.R145Q
c.434G>A
1 paper
NM_000363.5
p.R148G
c.442A>G
114 papers
NM_000363.5
p.R145W
c.433C>T
121 papers
NM_000363.5
p.R145G
c.433C>G
1 paper
NM_000363.5
p.L144R
c.431T>G
9 papers
NM_000363.5
p.L144P
c.431T>C
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