Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.G203S

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
78 papers
NM_000363.5
p.G203S
c.607G>A
Surrounding Variants
8 papers
NM_000363.5
p.G203R
c.607G>C
2 papers
NM_000363.5
p.G203V
c.608G>T
1 paper
NM_000363.5
p.G203D
c.608G>A
4 papers
NM_000363.5
p.G203fs
c.607_608fs
3 papers
NM_000363.5
p.E202G
c.605A>G
1 paper
NM_000363.5
p.E202A
c.605A>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.G203del1
c.607_608delGCC
1 paper
NM_000363.5
p.R204P
c.611G>C
36 papers
NM_000363.5
p.R204H
c.611G>A
10 papers
NM_000363.5
p.M201T
c.602T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."