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

10 papers

NM_000256.3

p.P147L

c.440C>T

Surrounding Variants

48 papers

NM_000256.3

p.G148R

c.442G>C

50 papers

NM_000256.3

p.G148R

c.442G>A

3 papers

NM_000256.3

p.T146fs

c.436_437fs

2 papers

NM_000256.3

p.G148fs

c.442_443fs

2 papers

NM_000256.3

p.P147_G148delFs

c.441_442delCA

5 papers

NM_000256.3

p.T146insFs

c.436_437insA

2 papers

NM_000256.3

p.T146N

c.437C>A

1 paper

NM_000256.3

p.T146fs

c.436_437fs

1 paper

NM_000256.3

p.T146A

c.436A>G

4 papers

NM_000256.3

p.T146P

c.436A>C

3 papers

NM_000256.3

p.G148insFs

c.443_444insG

1 paper

NM_000256.3

p.G148fs

c.442_443fs