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.E793insFs

c.2377_2378insG

Surrounding Variants

1 paper

NM_000256.3

p.E793fs

c.2377_2378fs

1 paper

NM_000256.3

p.Q791_W792insFs

c.2373_2374dupGT

42 papers

NM_000256.3

p.W792fs

c.2374_2375fs

8 papers

NM_000256.3

p.W792*

c.2376G>A

1 paper

NM_000256.3

p.W792L

c.2375G>T

6 papers

NM_000256.3

p.W792*

c.2375G>A

11 papers

NM_000256.3

p.P794L

c.2381C>T

2 papers

NM_000256.3

p.P794Q

c.2381C>A

172 papers

NM_000256.3

p.Q791insFs

c.2373dupG

31 papers

NM_000256.3

p.W792R

c.2374T>C

31 papers

NM_000256.3

p.W792R

c.2374T>A

1 paper

NM_000256.3

p.P794fs

c.2380_2381fs