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.L930delFs

c.2789delA

Surrounding Variants

1 paper

NM_000256.3

p.V931M

c.2791G>A

4 papers

NM_000256.3

p.V931fs

c.2791_2792fs

2 papers

NM_000256.3

p.V931insFs

c.2791_2792insG

1 paper

NM_000256.3

p.V931G

c.2792T>G

2 papers

NM_000256.3

p.L930fs

c.2788_2789fs

1 paper

NM_000256.3

p.L930V

c.2788C>G

3 papers

NM_000256.3

p.V931insFs

c.2792dupT

2 papers

NM_000256.3

p.V931fs

c.2791_2792fs

2 papers

NM_000256.3

p.K932fs

c.2794_2795fs

1 paper

NM_000256.3

p.K932R

c.2795A>G

1 paper

NM_000256.3

p.I929fs

c.2785_2786fs

6 papers

NM_000256.3

p.S928L

c.2783C>T