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.V783L

c.2347G>T

Surrounding Variants

1 paper

NM_000256.3

p.V783L

c.2347G>C

1 paper

NM_000256.3

p.V783M

c.2347G>A

1 paper

NM_000256.3

p.N782K

c.2346C>G

1 paper

NM_000256.3

p.N782K

c.2346C>A

4 papers

NM_000256.3

p.N782S

c.2345A>G

1 paper

NM_000256.3

p.N782Y

c.2344A>T

1 paper

NM_000256.3

p.G784E

c.2351G>A

1 paper

NM_000256.3

p.E785fs

c.2353_2354fs

1 paper

NM_000256.3

p.K779_I780insFs

c.2337_2338ins5

1 paper

NM_000256.3

p.I780T

c.2339T>C

6 papers

NM_000256.3

p.D786Y

c.2356G>T

2 papers

NM_000256.3

p.E785_D786delFs

c.2353_2357del5