Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.D168fs

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
2 papers
NM_000363.5
p.D168fs
c.502_503fs
Surrounding Variants
2 papers
NM_000363.5
p.L169fs
c.505_506fs
1 paper
NM_000363.5
p.D168delFs
c.502delC
1 paper
NM_000363.5
p.D168fs
c.502_503fs
2 papers
NM_000363.5
p.L169delFs
c.506delA
1 paper
NM_000363.5
p.L167P
c.500T>C
21 papers
NM_000363.5
p.R170W
c.508C>T
4 papers
NM_000363.5
p.R170G
c.508C>G
1 paper
NM_000363.5
p.R170P
c.509G>C
21 papers
NM_000363.5
p.R170Q
c.509G>A
1 paper
NM_000363.5
p.A171S
c.511G>T
29 papers
NM_000363.5
p.A171T
c.511G>A
42 papers
NM_000363.5
p.S166F
c.497C>T
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