Varaico: Literature-Extracted Genetic Variants

Gene:TNNI1
Variant:p.D96N

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.D96N
c.286G>A
Surrounding Variants
1 paper
NM_003281.4
p.K98T
c.293A>C
1 paper
NM_003281.4
p.R105C
c.313C>T
1 paper
NM_003281.4
p.R110L
c.329G>T
1 paper
NM_003281.4
p.R110H
c.329G>A
1 paper
NM_003281.4
p.R114C
c.340C>T
1 paper
NM_003281.4
p.R114H
c.341G>A
1 paper
NM_003281.4
p.R115G
c.343C>G
2 papers
NM_003281.4
p.R115Q
c.344G>A
2 papers
NM_003281.4
p.R117C
c.349C>T
1 paper
NM_003281.4
p.D121N
c.361G>A
1 paper
NM_003281.4
p.M123V
c.367A>G
1 paper
NM_003281.4
p.R125W
c.373C>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."