Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.Q175*

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.Q175*
c.523C>T
Surrounding Variants
3 papers
NM_000363.5
p.K174N
c.522G>T
3 papers
NM_000363.5
p.K174N
c.522G>C
1 paper
NM_000363.5
p.K174M
c.521A>T
8 papers
NM_000363.5
p.V176M
c.526G>A
1 paper
NM_000363.5
p.L173P
c.518T>C
1 paper
NM_000363.5
p.K177fs
c.529_530fs
2 papers
NM_000363.5
p.L173F
c.517C>T
1 paper
NM_000363.5
p.L173V
c.517C>G
1 paper
NM_000363.5
p.K177E
c.529A>G
1 paper
NM_000363.5
p.K177delFs
c.529_530delTT
47 papers
NM_000363.5
p.K178E
c.532A>G
2 papers
NM_000363.5
p.K178N
c.534G>T
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