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.A232fs

c.694_695fs

Surrounding Variants

2 papers

NM_000256.3

p.A232delFs

c.696delG

2 papers

NM_000256.3

p.A232V

c.695C>T

1 paper

NM_000256.3

p.F233fs

c.697_698fs

1 paper

NM_000256.3

p.P231insFs

c.693dupT

1 paper

NM_000256.3

p.P231R

c.692C>G

1 paper

NM_000256.3

p.P231S

c.691C>T

3 papers

NM_000256.3

p.T234N

c.701C>A

1 paper

NM_000256.3

p.T234insFs

c.701dupC

1 paper

NM_000256.3

p.I226insFs

c.676_677ins26

2 papers

NM_000256.3

p.Q230fs

c.688_689fs

6 papers

NM_000256.3

p.Q230delFs

c.688delG

1 paper

NM_000256.3

p.Q230fs

c.688_689fs