Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.A108delFs

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.A108delFs
c.323delG
Surrounding Variants
1 paper
NM_003280.3
p.D109N
c.325G>A
1 paper
NM_003280.3
p.D109G
c.326A>G
1 paper
NM_003280.3
p.G110C
c.328G>T
1 paper
NM_003280.3
p.G110S
c.328G>A
1 paper
NM_003280.3
p.N107S
c.320A>G
1 paper
NM_003280.3
p.G110V
c.329G>T
1 paper
NM_003280.3
p.K106R
c.317A>G
1 paper
NM_003280.3
p.K106Q
c.316A>C
1 paper
NM_003280.3
p.Y111*
c.333C>G
1 paper
NM_003280.3
p.Y111*
c.333C>A
1 paper
NM_003280.3
p.I112F
c.334A>T
1 paper
NM_003280.3
p.I112N
c.335T>A
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