Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.E59insFs

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.E59insFs
c.175dupG
Surrounding Variants
8 papers
NM_003280.3
p.E59D
c.177G>T
8 papers
NM_003280.3
p.E59D
c.177G>C
1 paper
NM_003280.3
p.E59Q
c.175G>C
1 paper
NM_003280.3
p.M60I
c.180G>T
1 paper
NM_003280.3
p.M60I
c.180G>C
1 paper
NM_003280.3
p.M60I
c.180G>A
6 papers
NM_003280.3
p.D62N
c.184G>A
1 paper
NM_003280.3
p.E56G
c.167A>G
1 paper
NM_003280.3
p.D62E
c.186T>G
1 paper
NM_003280.3
p.D62E
c.186T>A
1 paper
NM_003280.3
p.E56K
c.166G>A
1 paper
NM_003280.3
p.E63*
c.187G>T
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