Varaico: Literature-Extracted Genetic Variants

Gene:TNNI1
Variant:p.L18P

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
2 papers
NM_003281.4
p.L18P
c.53T>C
Surrounding Variants
1 paper
NM_003281.4
p.L16P
c.47T>C
1 paper
NM_003281.4
p.K15N
c.45A>T
1 paper
NM_003281.4
p.K15N
c.45A>C
2 papers
NM_003281.4
p.R14H
c.41G>A
1 paper
NM_003281.4
p.R14C
c.40C>T
1 paper
NM_003281.4
p.T11S
c.31A>T
1 paper
NM_003281.4
p.K9*
c.25A>T
1 paper
NM_003281.4
p.R6G
c.16A>G
1 paper
NM_003281.4
p.S20R
c.60C>A
1 paper
NM_003281.4
p.A24V
c.71C>T
1 paper
NM_003281.4
p.E28A
c.83A>C
1 paper
NM_003281.4
p.E31K
c.91G>A
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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."