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

8 papers

NM_000256.3

p.F448S

c.1343T>C

Surrounding Variants

1 paper

NM_000256.3

p.F448_V449insFs

c.1344_1345insT

1 paper

NM_000256.3

p.V449fs

c.1345_1346fs

2 papers

NM_000256.3

p.L447F

c.1339C>T

1 paper

NM_000256.3

p.E446E

c.1338G>A

1 paper

NM_000256.3

p.K450R

c.1349A>G

1 paper

NM_000256.3

p.K450T

c.1349A>C

1 paper

NM_000256.3

p.E446K

c.1336G>A

2 papers

NM_000256.3

p.E451*

c.1351G>T

1 paper

NM_000256.3

p.K450insFs

c.1349dupA

3 papers

NM_000256.3

p.E451Q

c.1351G>C

1 paper

NM_000256.3

p.E451K

c.1351G>A

1 paper

NM_000256.3

p.E451Splc

c.1351+1G>T