Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.S150P

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.S150P
c.448T>C
Surrounding Variants
2 papers
NM_000363.5
p.S150C
c.449C>G
1 paper
NM_000363.5
p.A151T
c.451G>A
1 paper
NM_000363.5
p.D152N
c.454G>A
1 paper
NM_000363.5
p.R148G
c.442A>G
1 paper
NM_000363.5
p.D152E
c.456T>G
1 paper
NM_000363.5
p.V147A
c.440T>C
1 paper
NM_000363.5
p.D152E
c.456T>A
3 papers
NM_000363.5
p.V147L
c.439G>T
3 papers
NM_000363.5
p.V147L
c.439G>C
1 paper
NM_000363.5
p.R146delFs
c.438delT
1 paper
NM_000363.5
p.A153D
c.458C>A
2 papers
NM_000363.5
p.R146S
c.438A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."