Varaico: Literature-Extracted Genetic Variants

Gene:TNNC2
Variant:p.D57E

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.D57E
c.171C>G
Surrounding Variants
1 paper
NM_003279.3
p.D57E
c.171C>A
2 papers
NM_003279.3
p.L56M
c.166C>A
1 paper
NM_003279.3
p.I60M
c.180C>G
1 paper
NM_003279.3
p.E65K
c.193G>A
1 paper
NM_003279.3
p.E65A
c.194A>C
1 paper
NM_003279.3
p.R45T
c.134G>C
1 paper
NM_003279.3
p.M44K
c.131T>A
1 paper
NM_003279.3
p.T42M
c.125C>T
1 paper
NM_003279.3
p.E39fs
c.115_116fs
1 paper
NM_003279.3
p.K38insFs
c.113_114insA
4 papers
NM_003279.3
p.D34Y
c.100G>T
1 paper
NM_003279.3
p.G31S
c.91G>A
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