Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.E209A

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
7 papers
NM_000363.5
p.E209A
c.626A>C
Surrounding Variants
2 papers
NM_000363.5
p.E209*
c.625G>T
2 papers
NM_000363.5
p.F208insFs
c.624dupT
8 papers
NM_000363.5
p.E209K
c.625G>A
1 paper
NM_000363.5
p.S210C
c.628A>T
2 papers
NM_000363.5
p.K207R
c.620A>G
2 papers
NM_000363.5
p.K207T
c.620A>C
12 papers
NM_000363.5
p.K206I
c.617A>T
2 papers
NM_000363.5
p.K206E
c.616A>G
50 papers
NM_000363.5
p.K206Q
c.616A>C
2 papers
NM_000363.5
p.K205fs
c.613_614fs
2 papers
NM_000363.5
p.K205Q
c.613A>C
2 papers
NM_000363.5
p.D196_R204insFs
c.587_611dup25
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