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

12 papers

NM_000256.3

p.C566R

c.1696T>C

Surrounding Variants

3 papers

NM_000256.3

p.C566S

c.1696T>A

2 papers

NM_000256.3

p.C566S

c.1697G>C

2 papers

NM_000256.3

p.C566fs

c.1696_1697fs

1 paper

NM_000256.3

p.E567*

c.1699G>T

2 papers

NM_000256.3

p.E567fs

c.1699_1700fs

3 papers

NM_000256.3

p.K565*

c.1693A>T

1 paper

NM_000256.3

p.E567fs

c.1699_1700fs

4 papers

NM_000256.3

p.E567delFs

c.1700_1701delCT

2 papers

NM_000256.3

p.V563delFs

c.1687delC

4 papers

NM_000256.3

p.D553_A562del10

c.1657_1685del30

2 papers

NM_000256.3

p.V563fs

c.1687_1688fs

8 papers

NM_000256.3

p.A562V

c.1685C>T