Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.E32K

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.E32K
c.94G>A
Surrounding Variants
1 paper
NM_000363.5
p.E32A
c.95A>C
1 paper
NM_000363.5
p.T31M
c.92C>T
2 papers
NM_000363.5
p.T31K
c.92C>A
1 paper
NM_000363.5
p.T31S
c.91A>T
2 papers
NM_000363.5
p.T31A
c.91A>G
1 paper
NM_000363.5
p.P33Q
c.98C>A
1 paper
NM_000363.5
p.Y29F
c.86A>T
2 papers
NM_000363.5
p.A28V
c.83C>T
31 papers
NM_000363.5
p.K36Q
c.106A>C
1 paper
NM_000363.5
p.K36_K37Splc
c.108+1G>A
2 papers
NM_000363.5
p.R27G
c.79C>G
1 paper
NM_000363.5
p.R27S
c.79C>A
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