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.M555_V556ins1

c.1665_1666insTCG

Surrounding Variants

4 papers

NM_000256.3

p.M555T

c.1664T>C

2 papers

NM_000256.3

p.G557C

c.1669G>T

2 papers

NM_000256.3

p.G557D

c.1670G>A

2 papers

NM_000256.3

p.G557insFs

c.1670dupG

1 paper

NM_000256.3

p.G557delFs

c.1670delC

1 paper

NM_000256.3

p.D553delFs

c.1658delT

5 papers

NM_000256.3

p.A558T

c.1672G>A

2 papers

NM_000256.3

p.A558fs

c.1672_1673fs

1 paper

NM_000256.3

p.D553N

c.1657G>A

1 paper

NM_000256.3

p.D553fs

c.1657_1658fs

1 paper

NM_000256.3

p.A558delFs

c.1672_1673delGC

1 paper

NM_000256.3

p.A552S

c.1654G>T