Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1

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
1–12 of 263 variants
62 papers
NM_003280.3
p.A8V
c.23C>T
45 papers
NM_003280.3
p.D145E
c.435C>A
42 papers
NM_003280.3
p.D145E
c.435C>G
39 papers
NM_003280.3
p.G159D
c.476G>A
36 papers
NM_003280.3
p.L29Q
c.86T>A
22 papers
NM_003280.3
p.C84Y
c.251G>A
20 papers
NM_003280.3
p.A31S
c.91G>T
16 papers
NM_003280.3
p.I148V
c.442A>G
14 papers
NM_003280.3
p.E134D
c.402G>T
14 papers
NM_003280.3
p.E134D
c.402G>C
13 papers
NM_003280.3
p.Y5H
c.13T>C
11 papers
NM_003280.3
p.Q50R
c.149A>G
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."