Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R204H

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
36 papers
NM_000363.5
p.R204H
c.611G>A
Surrounding Variants
1 paper
NM_000363.5
p.R204P
c.611G>C
18 papers
NM_000363.5
p.R204C
c.610C>T
1 paper
NM_000363.5
p.R204G
c.610C>G
2 papers
NM_000363.5
p.D196_R204insFs
c.587_611dup25
2 papers
NM_000363.5
p.G203del1
c.607_608delGCC
4 papers
NM_000363.5
p.G203fs
c.607_608fs
2 papers
NM_000363.5
p.K205Q
c.613A>C
2 papers
NM_000363.5
p.G203V
c.608G>T
1 paper
NM_000363.5
p.G203D
c.608G>A
2 papers
NM_000363.5
p.K205fs
c.613_614fs
8 papers
NM_000363.5
p.G203R
c.607G>C
78 papers
NM_000363.5
p.G203S
c.607G>A
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