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

4 papers

NM_000256.3

p.E32K

c.94G>A

Surrounding Variants

2 papers

NM_000256.3

p.E32fs

c.94_95fs

1 paper

NM_000256.3

p.E32V

c.95A>T

2 papers

NM_000256.3

p.E32delFs

c.95delT

3 papers

NM_000256.3

p.A31S

c.91G>T

75 papers

NM_000256.3

p.A31P

c.91G>C

3 papers

NM_000256.3

p.A31T

c.91G>A

2 papers

NM_000256.3

p.E30delFs

c.89_90delCT

1 paper

NM_000256.3

p.T33A

c.97A>G

1 paper

NM_000256.3

p.T33fs

c.97_98fs

1 paper

NM_000256.3

p.T33I

c.98C>T

1 paper

NM_000256.3

p.E30G

c.89A>G

1 paper

NM_000256.3

p.T33fs

c.97_98fs