Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.F20L

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.F20L
c.58T>C
Surrounding Variants
1 paper
NM_003280.3
p.F20L
c.60C>G
1 paper
NM_003280.3
p.F20L
c.60C>A
1 paper
NM_003280.3
p.E19A
c.56A>C
1 paper
NM_003280.3
p.K21T
c.62A>C
1 paper
NM_003280.3
p.A22S
c.64G>T
2 papers
NM_003280.3
p.A22T
c.64G>A
2 papers
NM_003280.3
p.A22E
c.65C>A
1 paper
NM_003280.3
p.F24L
c.70T>C
1 paper
NM_003280.3
p.F24L
c.72C>G
1 paper
NM_003280.3
p.F24L
c.72C>A
4 papers
NM_003280.3
p.D25N
c.73G>A
36 papers
NM_003280.3
p.L29Q
c.86T>A
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