Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.A197G

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.A197G
c.590C>G
Surrounding Variants
1 paper
NM_000363.5
p.D196E
c.588T>G
1 paper
NM_000363.5
p.D196E
c.588T>A
1 paper
NM_000363.5
p.L198L
c.592C>T
19 papers
NM_000363.5
p.L198V
c.592C>G
1 paper
NM_000363.5
p.L198R
c.593T>G
4 papers
NM_000363.5
p.L198P
c.593T>C
2 papers
NM_000363.5
p.I195_L198delFs
c.583_592del10
5 papers
NM_000363.5
p.D196G
c.587A>G
1 paper
NM_000363.5
p.D196A
c.587A>C
4 papers
NM_000363.5
p.D196H
c.586G>C
29 papers
NM_000363.5
p.D196N
c.586G>A
2 papers
NM_000363.5
p.I195M
c.585C>G
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