Varaico: Literature-Extracted Genetic Variants

Gene:TNNC2
Variant:p.F20L

TNNC2

24 papers

RefSeq Summary

Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn...

Pfam Domains

EF-hand_7aa 17–81UCSCEF-hand domain pair
EF-hand_7aa 93–157UCSCEF-hand domain pair

Gene Aliases

HGNC Name

troponin C2, fast skeletal type

HGNC Alias Symbols

FAP85; CFAP85

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003279.3
p.F20L
c.60C>G
Surrounding Variants
1 paper
NM_003279.3
p.F20L
c.60C>A
1 paper
NM_003279.3
p.F20L
c.58T>C
1 paper
NM_003279.3
p.A22T
c.64G>A
1 paper
NM_003279.3
p.A23S
c.67G>T
1 paper
NM_003279.3
p.D25N
c.73G>A
1 paper
NM_003279.3
p.D25A
c.74A>C
1 paper
NM_003279.3
p.A29D
c.86C>A
1 paper
NM_003279.3
p.D30H
c.88G>C
1 paper
NM_003279.3
p.G31S
c.91G>A
4 papers
NM_003279.3
p.D34Y
c.100G>T
1 paper
NM_003279.3
p.K38insFs
c.113_114insA
1 paper
NM_003279.3
p.E39fs
c.115_116fs
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