Varaico: Literature-Extracted Genetic Variants

Gene:TNNC2
Variant:p.A97A

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.A97A
c.291C>G
Surrounding Variants
1 paper
NM_003279.3
p.L96P
c.287T>C
1 paper
NM_003279.3
p.I102V
c.304A>G
1 paper
NM_003279.3
p.K91N
c.273G>T
1 paper
NM_003279.3
p.K91N
c.273G>C
1 paper
NM_003279.3
p.R105Splc
c.314+1G>C
1 paper
NM_003279.3
p.K89N
c.267A>T
1 paper
NM_003279.3
p.K89N
c.267A>C
1 paper
NM_003279.3
p.A88T
c.262G>A
1 paper
NM_003279.3
p.E86Q
c.256G>C
1 paper
NM_003279.3
p.M84T
c.251T>C
3 papers
NM_003279.3
p.M79I
c.237G>T
3 papers
NM_003279.3
p.M79I
c.237G>C
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