Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.R102S

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
2 papers
NM_003280.3
p.R102S
c.304C>A
Surrounding Variants
5 papers
NM_003280.3
p.R102C
c.304C>T
2 papers
NM_003280.3
p.R102L
c.305G>T
2 papers
NM_003280.3
p.R102H
c.305G>A
1 paper
NM_003280.3
p.M103L
c.307A>T
1 paper
NM_003280.3
p.M103V
c.307A>G
1 paper
NM_003280.3
p.M103L
c.307A>C
11 papers
NM_003280.3
p.M103I
c.309G>T
11 papers
NM_003280.3
p.M103I
c.309G>C
11 papers
NM_003280.3
p.M103I
c.309G>A
1 paper
NM_003280.3
p.L100I
c.298C>A
1 paper
NM_003280.3
p.D99V
c.296A>T
1 paper
NM_003280.3
p.D105H
c.313G>C
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