Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R186Q

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
52 papers
NM_000363.5
p.R186Q
c.557G>A
Surrounding Variants
4 papers
NM_000363.5
p.R186W
c.556C>T
2 papers
NM_000363.5
p.R186G
c.556C>G
18 papers
NM_000363.5
p.N185K
c.555C>G
18 papers
NM_000363.5
p.N185K
c.555C>A
1 paper
NM_000363.5
p.E187G
c.560A>G
1 paper
NM_000363.5
p.N185T
c.554A>C
2 papers
NM_000363.5
p.E187D
c.561G>T
1 paper
NM_000363.5
p.E187D
c.561G>C
1 paper
NM_000363.5
p.N185fs
c.553_554fs
1 paper
NM_000363.5
p.V188L
c.562G>T
1 paper
NM_000363.5
p.V188L
c.562G>C
1 paper
NM_000363.5
p.V188M
c.562G>A
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