Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.G159D

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
39 papers
NM_003280.3
p.G159D
c.476G>A
Surrounding Variants
1 paper
NM_003280.3
p.G159C
c.475G>T
2 papers
NM_003280.3
p.G159R
c.475G>C
1 paper
NM_003280.3
p.G159S
c.475G>A
1 paper
NM_003280.3
p.K158N
c.474G>T
1 paper
NM_003280.3
p.K158N
c.474G>C
1 paper
NM_003280.3
p.V160M
c.478G>A
1 paper
NM_003280.3
p.K158T
c.473A>C
2 papers
NM_003280.3
p.E161K
c.481G>A
1 paper
NM_003280.3
p.M157L
c.469A>T
1 paper
NM_003280.3
p.M157L
c.469A>C
1 paper
NM_003280.3
p.L154delFs
c.460delG
1 paper
NM_003280.3
p.E152K
c.454G>A
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