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.G1099delFs

c.3297delC

Surrounding Variants

11 papers

NM_000256.3

p.G1099insFs

c.3295dupG

1 paper

NM_000256.3

p.G1099delFs

c.3296_3297delCC

9 papers

NM_000256.3

p.Y1100fs

c.3298_3299fs

1 paper

NM_000256.3

p.G1099fs

c.3295_3296fs

1 paper

NM_000256.3

p.Y1100F

c.3299A>T

1 paper

NM_000256.3

p.Y1100C

c.3299A>G

2 papers

NM_000256.3

p.G1099A

c.3296G>C

1 paper

NM_000256.3

p.G1099E

c.3296G>A

5 papers

NM_000256.3

p.Y1100*

c.3300C>G

3 papers

NM_000256.3

p.Y1100fs

c.3298_3299fs

5 papers

NM_000256.3

p.Y1100*

c.3300C>A

2 papers

NM_000256.3

p.G1099R

c.3295G>C