Varaico: Literature-Extracted Genetic Variants

Gene:TNNI1
Variant:p.K175N

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.K175N
c.525G>T
Surrounding Variants
1 paper
NM_003281.4
p.K175N
c.525G>C
3 papers
NM_003281.4
p.K175*
c.523A>T
5 papers
NM_003281.4
p.R174Q
c.521G>A
4 papers
NM_003281.4
p.K176del1
c.526_527delCTT
2 papers
NM_003281.4
p.R174W
c.520C>T
1 paper
NM_003281.4
p.R174G
c.520C>G
1 paper
NM_003281.4
p.F178C
c.533T>G
1 paper
NM_003281.4
p.S169Y
c.506C>A
1 paper
NM_003281.4
p.E166V
c.497A>T
1 paper
NM_003281.4
p.V165E
c.494T>A
1 paper
NM_003281.4
p.K163N
c.489G>T
1 paper
NM_003281.4
p.K163N
c.489G>C
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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."