Varaico: Literature-Extracted Genetic Variants

Gene:TNNI1
Variant:p.G159D

TNNI1

59 papers

RefSeq Summary

Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin...

Pfam Domains

Troponinaa 15–146UCSCTroponin

Gene Aliases

HGNC Name

troponin I1, slow skeletal type

HGNC Alias Symbol

ssTnI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003281.4
p.G159D
c.476G>A
Surrounding Variants
1 paper
NM_003281.4
p.E157K
c.469G>A
3 papers
NM_003281.4
p.R162W
c.484A>T
2 papers
NM_003281.4
p.R162G
c.484A>G
1 paper
NM_003281.4
p.R162K
c.485G>A
1 paper
NM_003281.4
p.K163N
c.489G>T
1 paper
NM_003281.4
p.K163N
c.489G>C
1 paper
NM_003281.4
p.R154W
c.460C>T
1 paper
NM_003281.4
p.V165E
c.494T>A
1 paper
NM_003281.4
p.E166V
c.497A>T
1 paper
NM_003281.4
p.K152_E153Splc
c.457-8G>A
1 paper
NM_003281.4
p.S169Y
c.506C>A
2 papers
NM_003281.4
p.R174W
c.520C>T
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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."