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

3 papers

NM_000256.3

p.D798_G799insFs

c.2394_2395insT

Surrounding Variants

1 paper

NM_000256.3

p.G799fs

c.2395_2396fs

1 paper

NM_000256.3

p.G799fs

c.2395_2396fs

5 papers

NM_000256.3

p.G800R

c.2398G>C

7 papers

NM_000256.3

p.G800R

c.2398G>A

1 paper

NM_000256.3

p.D798N

c.2392G>A

12 papers

NM_000256.3

p.Y797*

c.2391C>G

12 papers

NM_000256.3

p.Y797*

c.2391C>A

1 paper

NM_000256.3

p.G800G

c.2400G>C

1 paper

NM_000256.3

p.Q801*

c.2401C>T

1 paper

NM_000256.3

p.A796T

c.2386G>A

2 papers

NM_000256.3

p.A796fs

c.2386_2387fs

1 paper

NM_000256.3

p.P795_A796insFs

c.2385_2386ins26