Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.G189R

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.G189R
c.565G>A
Surrounding Variants
2 papers
NM_000363.5
p.G189E
c.566G>A
7 papers
NM_000363.5
p.D190Y
c.568G>T
1 paper
NM_000363.5
p.V188L
c.562G>T
12 papers
NM_000363.5
p.D190H
c.568G>C
1 paper
NM_000363.5
p.V188L
c.562G>C
1 paper
NM_000363.5
p.V188M
c.562G>A
2 papers
NM_000363.5
p.E187D
c.561G>T
1 paper
NM_000363.5
p.E187D
c.561G>C
30 papers
NM_000363.5
p.D190G
c.569A>G
1 paper
NM_000363.5
p.D190E
c.570C>A
1 paper
NM_000363.5
p.E187G
c.560A>G
2 papers
NM_000363.5
p.W191*
c.572G>A
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