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.I929fs

c.2785_2786fs

Surrounding Variants

6 papers

NM_000256.3

p.S928L

c.2783C>T

1 paper

NM_000256.3

p.S928insFs

c.2783_2784ins7

3 papers

NM_000256.3

p.S928*

c.2783C>A

11 papers

NM_000256.3

p.T927delFs

c.2780_2781delTG

2 papers

NM_000256.3

p.L930fs

c.2788_2789fs

3 papers

NM_000256.3

p.S928fs

c.2782_2783fs

1 paper

NM_000256.3

p.L930V

c.2788C>G

2 papers

NM_000256.3

p.T927fs

c.2779_2780fs

3 papers

NM_000256.3

p.T927_S928insFs

c.2781_2782ins4

3 papers

NM_000256.3

p.L930delFs

c.2789delA

1 paper

NM_000256.3

p.T927I

c.2780C>T

1 paper

NM_000256.3

p.V931M

c.2791G>A