Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.A8V

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
62 papers
NM_003280.3
p.A8V
c.23C>T
Surrounding Variants
1 paper
NM_003280.3
p.A8_V9Splc
c.24+1G>A
1 paper
NM_003280.3
p.A7D
c.20C>A
3 papers
NM_003280.3
p.K6Q
c.16A>C
1 paper
NM_003280.3
p.Y5*
c.15C>G
1 paper
NM_003280.3
p.Y5*
c.15C>A
13 papers
NM_003280.3
p.Y5H
c.13T>C
5 papers
NM_003280.3
p.I4M
c.12C>G
1 paper
NM_003280.3
p.I4L
c.10A>C
2 papers
NM_003280.3
p.D3V
c.8A>T
1 paper
NM_003280.3
p.D2G
c.5A>G
1 paper
NM_003280.3
p.D2insFs
c.4dupG
1 paper
NM_003280.3
p.D2Y
c.4G>T
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