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.Q549*

c.1645C>T

Surrounding Variants

1 paper

NM_000256.3

p.V547_Y548del0

c.1639_1644del6

1 paper

NM_000256.3

p.Y548*

c.1644C>G

1 paper

NM_000256.3

p.Y548*

c.1644C>A

1 paper

NM_000256.3

p.Y548delFs

c.1643delT

5 papers

NM_000256.3

p.V547_Y548delFs

c.1641_1642delAC

1 paper

NM_000256.3

p.Y548fs

c.1642_1643fs

1 paper

NM_000256.3

p.V547V

c.1641G>A

2 papers

NM_000256.3

p.V547delFs

c.1639delC

1 paper

NM_000256.3

p.Q549_S550ins0

c.1647_1649dupGAG

1 paper

NM_000256.3

p.I551_A552insT

c.1651_1655ins3

1 paper

NM_000256.3

p.E546fs

c.1636_1637fs

1 paper

NM_000256.3

p.E546V

c.1637A>T