Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.Y150C

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.Y150C
c.449A>G
Surrounding Variants
1 paper
NM_003280.3
p.Y150_D151insFs
c.450_451insG
1 paper
NM_003280.3
p.Y150*
c.450T>G
1 paper
NM_003280.3
p.Y150*
c.450T>A
1 paper
NM_003280.3
p.Y150delFs
c.449_450delAT
3 papers
NM_003280.3
p.D151V
c.452A>T
2 papers
NM_003280.3
p.D149G
c.446A>G
1 paper
NM_003280.3
p.D151G
c.452A>G
2 papers
NM_003280.3
p.D149Y
c.445G>T
5 papers
NM_003280.3
p.D149N
c.445G>A
16 papers
NM_003280.3
p.I148V
c.442A>G
2 papers
NM_003280.3
p.R147H
c.440G>A
3 papers
NM_003280.3
p.R147C
c.439C>T
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