Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.M81T

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.M81T
c.242T>C
Surrounding Variants
4 papers
NM_003280.3
p.M81I
c.243G>T
4 papers
NM_003280.3
p.M81I
c.243G>C
4 papers
NM_003280.3
p.M81I
c.243G>A
2 papers
NM_003280.3
p.M81L
c.241A>T
2 papers
NM_003280.3
p.M81L
c.241A>C
1 paper
NM_003280.3
p.V82I
c.244G>A
1 paper
NM_003280.3
p.M80K
c.239T>A
3 papers
NM_003280.3
p.R83W
c.247C>T
3 papers
NM_003280.3
p.R83Q
c.248G>A
3 papers
NM_003280.3
p.C84S
c.250T>A
3 papers
NM_003280.3
p.C84S
c.251G>C
22 papers
NM_003280.3
p.C84Y
c.251G>A
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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."