Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.D152E

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.D152E
c.456T>G
Surrounding Variants
1 paper
NM_000363.5
p.D152E
c.456T>A
1 paper
NM_000363.5
p.D152N
c.454G>A
1 paper
NM_000363.5
p.A153D
c.458C>A
1 paper
NM_000363.5
p.M154L
c.460A>T
1 paper
NM_000363.5
p.M154V
c.460A>G
1 paper
NM_000363.5
p.M154L
c.460A>C
1 paper
NM_000363.5
p.M154T
c.461T>C
1 paper
NM_000363.5
p.A151T
c.451G>A
2 papers
NM_000363.5
p.M154I
c.462G>T
2 papers
NM_000363.5
p.M154I
c.462G>C
3 papers
NM_000363.5
p.M154I
c.462G>A
2 papers
NM_000363.5
p.S150C
c.449C>G
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