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

1 paper

NM_000256.3

p.E583G

c.1748A>G

Surrounding Variants

1 paper

NM_000256.3

p.G581E

c.1742G>A

1 paper

NM_000256.3

p.V585_P586insFs

c.1755_1756insTG

3 papers

NM_000256.3

p.P586A

c.1756C>G

2 papers

NM_000256.3

p.V585delFs

c.1755delC

1 paper

NM_000256.3

p.P586fs

c.1756_1757fs

1 paper

NM_000256.3

p.D587H

c.1759G>C

6 papers

NM_000256.3

p.D587N

c.1759G>A

2 papers

NM_000256.3

p.D587fs

c.1759_1760fs

1 paper

NM_000256.3

p.D587V

c.1760A>T

2 papers

NM_000256.3

p.K579R

c.1736A>G

2 papers

NM_000256.3

p.K579T

c.1736A>C

2 papers

NM_000256.3

p.W577C

c.1731G>T