Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.K178E

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
47 papers
NM_000363.5
p.K178E
c.532A>G
Surrounding Variants
1 paper
NM_000363.5
p.K177delFs
c.529_530delTT
2 papers
NM_000363.5
p.K178N
c.534G>T
1 paper
NM_000363.5
p.K178N
c.534G>C
1 paper
NM_000363.5
p.E179*
c.535G>T
7 papers
NM_000363.5
p.K178del1
c.532_533delCTT
1 paper
NM_000363.5
p.K177fs
c.529_530fs
1 paper
NM_000363.5
p.K177E
c.529A>G
3 papers
NM_000363.5
p.E179G
c.536A>G
3 papers
NM_000363.5
p.E179E
c.537G>A
8 papers
NM_000363.5
p.V176M
c.526G>A
2 papers
NM_000363.5
p.D180fs
c.538_539fs
10 papers
NM_000363.5
p.D180G
c.539A>G
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