Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.G91W

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.G91W
c.271G>T
Surrounding Variants
1 paper
NM_003280.3
p.G91R
c.271G>C
1 paper
NM_003280.3
p.G91R
c.271G>A
2 papers
NM_003280.3
p.G91E
c.272G>A
1 paper
NM_003280.3
p.K92R
c.275A>G
1 paper
NM_003280.3
p.D88Y
c.262G>T
1 paper
NM_003280.3
p.E94Q
c.280G>C
5 papers
NM_003280.3
p.D88N
c.262G>A
1 paper
NM_003280.3
p.D87E
c.261C>G
1 paper
NM_003280.3
p.D87E
c.261C>A
3 papers
NM_003280.3
p.E94V
c.281A>T
6 papers
NM_003280.3
p.E94A
c.281A>C
1 paper
NM_003280.3
p.E96K
c.286G>A
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