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.K218_V219Splc

c.655-18G>A

Surrounding Variants

4 papers

NM_000256.3

p.K218_V219Splc

c.655-25A>G

1 paper

NM_000256.3

p.K218_V219Splc

c.655-27T>G

1 paper

NM_000256.3

p.K218_V219Splc

c.655-3C>G

8 papers

NM_000256.3

p.K218_V219Splc

c.655-2A>C

9 papers

NM_000256.3

p.K218_V219Splc

c.655-1G>A

12 papers

NM_000256.3

p.V219F

c.655G>T

45 papers

NM_000256.3

p.V219L

c.655G>C

3 papers

NM_000256.3

p.V219fs

c.655_656fs

11 papers

NM_000256.3

p.Y220C

c.659A>G

1 paper

NM_000256.3

p.Y220S

c.659A>C

1 paper

NM_000256.3

p.V219_Y220delFs

c.655_658del4

1 paper

NM_000256.3

p.L221V

c.661C>G