Varaico: Literature-Extracted Genetic Variants

MYBPC3

1,762 papers

RefSeq Summary

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle....

Pfam Domains

I-setaa 10–94UCSCImmunoglobulin I-set domain

I-setaa 156–256UCSCImmunoglobulin I-set domain

THBaa 320–353UCSCTri-helix bundle domain

I-setaa 363–449UCSCImmunoglobulin I-set domain

I-setaa 454–538UCSCImmunoglobulin I-set domain

I-setaa 545–628UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein C3

HGNC Previous Symbol

CMH4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000256.3

p.A22insFs

c.65_66insG

Surrounding Variants

1 paper

NM_000256.3

p.A22V

c.65C>T

1 paper

NM_000256.3

p.A22delFs

c.64delC

1 paper

NM_000256.3

p.A22S

c.64G>T

3 papers

NM_000256.3

p.A22T

c.64G>A

2 papers

NM_000256.3

p.E20_V21delFs

c.58_62del5

1 paper

NM_000256.3

p.A22A

c.66C>T

4 papers

NM_000256.3

p.A23T

c.67G>A

2 papers

NM_000256.3

p.A23fs

c.67_68fs

1 paper

NM_000256.3

p.E20_V21ins1

c.60_61insAGC

2 papers

NM_000256.3

p.V21G

c.62T>G

1 paper

NM_000256.3

p.A23Fs

c.69delinsGAFs

1 paper

NM_000256.3

p.G24A

c.71G>C