Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.S37R

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.S37R
c.111C>A
Surrounding Variants
1 paper
NM_003280.3
p.S37T
c.110G>C
1 paper
NM_003280.3
p.S37N
c.110G>A
1 paper
NM_003280.3
p.T38N
c.113C>A
1 paper
NM_003280.3
p.I36I
c.108C>A
1 paper
NM_003280.3
p.K39R
c.116A>G
1 paper
NM_003280.3
p.I36V
c.106A>G
5 papers
NM_003280.3
p.C35S
c.104G>C
1 paper
NM_003280.3
p.E40K
c.118G>A
5 papers
NM_003280.3
p.C35S
c.103T>A
2 papers
NM_003280.3
p.L41M
c.121C>A
1 paper
NM_003280.3
p.G34R
c.100G>C
7 papers
NM_003280.3
p.G34S
c.100G>A
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