Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.Q50R

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
11 papers
NM_003280.3
p.Q50R
c.149A>G
Surrounding Variants
1 paper
NM_003280.3
p.G49V
c.146G>T
1 paper
NM_003280.3
p.N51K
c.153C>G
1 paper
NM_003280.3
p.N51K
c.153C>A
8 papers
NM_003280.3
p.L48Q
c.143T>A
2 papers
NM_003280.3
p.P52R
c.155C>G
1 paper
NM_003280.3
p.M47I
c.141G>T
1 paper
NM_003280.3
p.M47I
c.141G>C
1 paper
NM_003280.3
p.M47I
c.141G>A
1 paper
NM_003280.3
p.T53A
c.157A>G
1 paper
NM_003280.3
p.N51delFs
c.153delG
1 paper
NM_003280.3
p.M47R
c.140T>G
1 paper
NM_003280.3
p.M47L
c.139A>T
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