Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.S199N

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
22 papers
NM_000363.5
p.S199N
c.596G>A
Surrounding Variants
1 paper
NM_000363.5
p.S199_G200insFs
c.597_598ins4
1 paper
NM_000363.5
p.S199R
c.597T>G
1 paper
NM_000363.5
p.S199R
c.597T>A
4 papers
NM_000363.5
p.S199G
c.595A>G
1 paper
NM_000363.5
p.S199R
c.595A>C
1 paper
NM_000363.5
p.L198R
c.593T>G
4 papers
NM_000363.5
p.L198P
c.593T>C
2 papers
NM_000363.5
p.I195_L198delFs
c.583_592del10
1 paper
NM_000363.5
p.L198L
c.592C>T
19 papers
NM_000363.5
p.L198V
c.592C>G
10 papers
NM_000363.5
p.M201T
c.602T>C
1 paper
NM_000363.5
p.A197G
c.590C>G
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