Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.N194T

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.N194T
c.581A>C
Surrounding Variants
5 papers
NM_000363.5
p.N194S
c.581A>G
1 paper
NM_000363.5
p.N194K
c.582C>G
1 paper
NM_000363.5
p.N194K
c.582C>A
1 paper
NM_000363.5
p.N194Y
c.580A>T
2 papers
NM_000363.5
p.K193N
c.579G>T
2 papers
NM_000363.5
p.K193N
c.579G>C
1 paper
NM_000363.5
p.I195F
c.583A>T
1 paper
NM_000363.5
p.I195T
c.584T>C
1 paper
NM_000363.5
p.K193R
c.578A>G
2 papers
NM_000363.5
p.I195M
c.585C>G
2 papers
NM_000363.5
p.K193E
c.577A>G
4 papers
NM_000363.5
p.D196H
c.586G>C
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