Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.I128T

TNNC1

266 papers

RefSeq Summary

Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor o...

Pfam Domains

EF-hand_8aa 32–84UCSCEF-hand domain pair
EF-hand_7aa 94–158UCSCEF-hand domain pair

Gene Aliases

HGNC Name

troponin C1, slow skeletal and cardiac type

HGNC Previous Name

troponin C type 1 (slow)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003280.3
p.I128T
c.383T>C
Surrounding Variants
4 papers
NM_003280.3
p.T129M
c.386C>T
1 paper
NM_003280.3
p.E126Q
c.376G>C
3 papers
NM_003280.3
p.E126K
c.376G>A
1 paper
NM_003280.3
p.G125R
c.373G>C
1 paper
NM_003280.3
p.G125S
c.373G>A
1 paper
NM_003280.3
p.T124delFs
c.372delT
2 papers
NM_003280.3
p.D131E
c.393C>G
2 papers
NM_003280.3
p.D131E
c.393C>A
1 paper
NM_003280.3
p.G125fs
c.373_374fs
1 paper
NM_003280.3
p.D132H
c.394G>C
5 papers
NM_003280.3
p.D132N
c.394G>A
1 paper
NM_003280.3
p.D132E
c.396C>G
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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."