Varaico: Literature-Extracted Genetic Variants

Gene:TNNC2

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
1–12 of 70 variants
4 papers
NM_003279.3
p.D34Y
c.100G>T
3 papers
NM_003279.3
p.M79I
c.237G>T
3 papers
NM_003279.3
p.M79I
c.237G>C
3 papers
NM_003279.3
p.M79I
c.237G>A
2 papers
NM_003279.3
p.L56M
c.166C>A
1 paper
NM_003279.3
p.T2M
c.5C>T
1 paper
NM_003279.3
p.A6T
c.16G>A
1 paper
NM_003279.3
p.A8V
c.23C>T
1 paper
NM_003279.3
p.R9M
c.26G>T
1 paper
NM_003279.3
p.Y11S
c.32A>C
1 paper
NM_003279.3
p.E15D
c.45G>T
1 paper
NM_003279.3
p.E15D
c.45G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."