Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R21insFs

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.R21insFs
c.62dupG
Surrounding Variants
1 paper
NM_000363.5
p.R21H
c.62G>A
1 paper
NM_000363.5
p.R22C
c.64C>T
2 papers
NM_000363.5
p.R22H
c.65G>A
43 papers
NM_000363.5
p.R21C
c.61C>T
1 paper
NM_000363.5
p.R21G
c.61C>G
1 paper
NM_000363.5
p.R22fs
c.64_65fs
9 papers
NM_000363.5
p.S23A
c.67T>G
1 paper
NM_000363.5
p.S23P
c.67T>C
2 papers
NM_000363.5
p.I19_R20delFs
c.55_58del4
1 paper
NM_000363.5
p.S23_S24ins2
c.69_70ins6
1 paper
NM_000363.5
p.I19fs
c.55_56fs
2 papers
NM_000363.5
p.S24A
c.70T>G
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