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

11 papers

NM_000256.3

p.R574W

c.1720C>T

Surrounding Variants

2 papers

NM_000256.3

p.R574L

c.1721G>T

10 papers

NM_000256.3

p.R574Q

c.1721G>A

2 papers

NM_000256.3

p.G575R

c.1723G>C

2 papers

NM_000256.3

p.G575V

c.1724G>T

1 paper

NM_000256.3

p.G575fs

c.1723_1724fs

2 papers

NM_000256.3

p.G575delFs

c.1724delC

1 paper

NM_000256.3

p.V573_V576del4

c.1717_1727del12

2 papers

NM_000256.3

p.W577fs

c.1729_1730fs

2 papers

NM_000256.3

p.D570fs

c.1708_1709fs

9 papers

NM_000256.3

p.W577*

c.1730G>A

2 papers

NM_000256.3

p.W577delFs

c.1729delA

2 papers

NM_000256.3

p.W577C

c.1731G>T