Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.L121P

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.L121P
c.362T>C
Surrounding Variants
1 paper
NM_003280.3
p.L121insFs
c.361_362insCT
1 paper
NM_003280.3
p.L121fs
c.361_362fs
1 paper
NM_003280.3
p.M120I
c.360G>T
1 paper
NM_003280.3
p.M120I
c.360G>C
1 paper
NM_003280.3
p.M120I
c.360G>A
1 paper
NM_003280.3
p.Q122fs
c.364_365fs
4 papers
NM_003280.3
p.L121insFs
c.363dupG
1 paper
NM_003280.3
p.Q122fs
c.364_365fs
1 paper
NM_003280.3
p.I119T
c.356T>C
1 paper
NM_003280.3
p.I119V
c.355A>G
1 paper
NM_003280.3
p.K118N
c.354G>T
1 paper
NM_003280.3
p.K118N
c.354G>C
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