Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.E134A

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.E134A
c.401A>C
Surrounding Variants
14 papers
NM_003280.3
p.E134D
c.402G>T
14 papers
NM_003280.3
p.E134D
c.402G>C
5 papers
NM_003280.3
p.E134K
c.400G>A
1 paper
NM_003280.3
p.E135K
c.403G>A
1 paper
NM_003280.3
p.E135A
c.404A>C
1 paper
NM_003280.3
p.I133V
c.397A>G
1 paper
NM_003280.3
p.D132del1
c.394_395delGTC
1 paper
NM_003280.3
p.D132E
c.396C>G
1 paper
NM_003280.3
p.D132E
c.396C>A
1 paper
NM_003280.3
p.L136P
c.407T>C
1 paper
NM_003280.3
p.D132H
c.394G>C
5 papers
NM_003280.3
p.D132N
c.394G>A
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