Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R162W

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
91 papers
NM_000363.5
p.R162W
c.484C>T
Surrounding Variants
2 papers
NM_000363.5
p.R162G
c.484C>G
4 papers
NM_000363.5
p.R162L
c.485G>T
23 papers
NM_000363.5
p.R162P
c.485G>C
68 papers
NM_000363.5
p.R162Q
c.485G>A
1 paper
NM_000363.5
p.A161V
c.482C>T
2 papers
NM_000363.5
p.A161D
c.482C>A
2 papers
NM_000363.5
p.A161P
c.481G>C
1 paper
NM_000363.5
p.A161T
c.481G>A
2 papers
NM_000363.5
p.A163V
c.488C>T
2 papers
NM_000363.5
p.A163G
c.488C>G
1 paper
NM_000363.5
p.G160R
c.478G>A
2 papers
NM_000363.5
p.K164E
c.490A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."