Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.M137T

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
1 paper
NM_003280.3
p.M137T
c.410T>C
Surrounding Variants
1 paper
NM_003280.3
p.L136P
c.407T>C
1 paper
NM_003280.3
p.E135A
c.404A>C
1 paper
NM_003280.3
p.E135K
c.403G>A
14 papers
NM_003280.3
p.E134D
c.402G>T
14 papers
NM_003280.3
p.E134D
c.402G>C
5 papers
NM_003280.3
p.G140R
c.418G>C
5 papers
NM_003280.3
p.G140R
c.418G>A
3 papers
NM_003280.3
p.G140E
c.419G>A
1 paper
NM_003280.3
p.E134A
c.401A>C
5 papers
NM_003280.3
p.E134K
c.400G>A
1 paper
NM_003280.3
p.D141N
c.421G>A
2 papers
NM_003280.3
p.D141A
c.422A>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."