Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.N144D

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
10 papers
NM_003280.3
p.N144D
c.430A>G
Surrounding Variants
1 paper
NM_003280.3
p.N144S
c.431A>G
2 papers
NM_003280.3
p.D145N
c.433G>A
1 paper
NM_003280.3
p.N144del1
c.430_431delGTT
1 paper
NM_003280.3
p.K142N
c.426G>T
1 paper
NM_003280.3
p.K142N
c.426G>C
42 papers
NM_003280.3
p.D145E
c.435C>G
45 papers
NM_003280.3
p.D145E
c.435C>A
1 paper
NM_003280.3
p.G146S
c.436G>A
2 papers
NM_003280.3
p.D141A
c.422A>C
1 paper
NM_003280.3
p.D141N
c.421G>A
3 papers
NM_003280.3
p.R147C
c.439C>T
2 papers
NM_003280.3
p.R147H
c.440G>A
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