Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.T124delFs

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.T124delFs
c.372delT
Surrounding Variants
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.G125fs
c.373_374fs
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.T124A
c.370A>G
1 paper
NM_003280.3
p.Q122fs
c.364_365fs
1 paper
NM_003280.3
p.Q122fs
c.364_365fs
4 papers
NM_003280.3
p.L121insFs
c.363dupG
2 papers
NM_003280.3
p.I128T
c.383T>C
1 paper
NM_003280.3
p.L121insFs
c.361_362insCT
1 paper
NM_003280.3
p.L121fs
c.361_362fs
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