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

6 papers

NM_000256.3

p.S139*

c.416C>A

Surrounding Variants

1 paper

NM_000256.3

p.S139L

c.416C>T

6 papers

NM_000256.3

p.S139*

c.416C>G

1 paper

NM_000256.3

p.S139S

c.417A>C

1 paper

NM_000256.3

p.A140S

c.418G>T

1 paper

NM_000256.3

p.A140T

c.418G>A

1 paper

NM_000256.3

p.A140V

c.419C>T

1 paper

NM_000256.3

p.S138G

c.412A>G

1 paper

NM_000256.3

p.A141P

c.421G>C

5 papers

NM_000256.3

p.S137*

c.410C>G

1 paper

NM_000256.3

p.A141G

c.422C>G

5 papers

NM_000256.3

p.S137*

c.410C>A

1 paper

NM_000256.3

p.A141D

c.422C>A