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.K87E

c.259A>G

Surrounding Variants

2 papers

NM_000256.3

p.S86del1

c.256_257delGGA

1 paper

NM_000256.3

p.S86delins

c.258delinsT

1 paper

NM_000256.3

p.S85_S86delFs

c.253_256del4

2 papers

NM_000256.3

p.S85delFs

c.255delG

1 paper

NM_000256.3

p.S86fs

c.256_257fs

1 paper

NM_000256.3

p.A83_S85del0

c.248_253del6

1 paper

NM_000256.3

p.V88V

c.264C>T

2 papers

NM_000256.3

p.S85C

c.254C>G

1 paper

NM_000256.3

p.S85fs

c.253_254fs

1 paper

NM_000256.3

p.K89*

c.265A>T

1 paper

NM_000256.3

p.G84G

c.252C>A

1 paper

NM_000256.3

p.K89R

c.266A>G