Varaico: Literature-Extracted Genetic Variants

Gene:TNNI1
Variant:p.R48C

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.R48C
c.142C>T
Surrounding Variants
1 paper
NM_003281.4
p.A46T
c.136G>A
1 paper
NM_003281.4
p.L52P
c.155T>C
3 papers
NM_003281.4
p.R43H
c.128G>A
1 paper
NM_003281.4
p.R43C
c.127C>T
1 paper
NM_003281.4
p.E40G
c.119A>G
1 paper
NM_003281.4
p.G56S
c.166G>A
1 paper
NM_003281.4
p.R37H
c.110G>A
2 papers
NM_003281.4
p.R37C
c.109C>T
1 paper
NM_003281.4
p.E35K
c.103G>A
1 paper
NM_003281.4
p.A61V
c.182C>T
1 paper
NM_003281.4
p.Q63_D64Splc
c.189+3T>G
1 paper
NM_003281.4
p.E31K
c.91G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."