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.E828K

c.2482G>A

Surrounding Variants

1 paper

NM_000256.3

p.E828fs

c.2482_2483fs

1 paper

NM_000256.3

p.Q827H

c.2481G>T

1 paper

NM_000256.3

p.Q827*

c.2479C>T

3 papers

NM_000256.3

p.Q827K

c.2479C>A

1 paper

NM_000256.3

p.S830fs

c.2488_2489fs

11 papers

NM_000256.3

p.H831fs

c.2491_2492fs

17 papers

NM_000256.3

p.S830insFs

c.2490dupT

3 papers

NM_000256.3

p.H831fs

c.2491_2492fs

1 paper

NM_000256.3

p.D824insFs

c.2470_2471insGG

6 papers

NM_000256.3

p.D824N

c.2470G>A

2 papers

NM_000256.3

p.E832K

c.2494G>A

1 paper

NM_000256.3

p.D824fs

c.2470_2471fs