Varaico: Literature-Extracted Genetic Variants

Gene:TNNI1
Variant:p.R67Q

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.R67Q
c.200G>A
Surrounding Variants
1 paper
NM_003281.4
p.R67W
c.199C>T
1 paper
NM_003281.4
p.E68K
c.202G>A
1 paper
NM_003281.4
p.H70Q
c.210C>G
1 paper
NM_003281.4
p.H70Q
c.210C>A
1 paper
NM_003281.4
p.Q63_D64Splc
c.190-9G>A
1 paper
NM_003281.4
p.E74D
c.222G>T
1 paper
NM_003281.4
p.E74D
c.222G>C
1 paper
NM_003281.4
p.V75A
c.224T>C
1 paper
NM_003281.4
p.E79D
c.237G>C
1 paper
NM_003281.4
p.E84K
c.250G>A
1 paper
NM_003281.4
p.N90S
c.269A>G
3 papers
NM_003281.4
p.R92W
c.274A>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."