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.C913*

c.2739C>A

Surrounding Variants

2 papers

NM_000256.3

p.C913S

c.2738G>C

2 papers

NM_000256.3

p.C913S

c.2737T>A

2 papers

NM_000256.3

p.C913Splc

c.2738-1G>A

5 papers

NM_000256.3

p.C913Splc

c.2738-2A>T

2 papers

NM_000256.3

p.C913Splc

c.2738-2A>G

1 paper

NM_000256.3

p.C913Splc

c.2738-2A>C

2 papers

NM_000256.3

p.E915*

c.2743G>T

2 papers

NM_000256.3

p.C913Splc

c.2738-3C>G

1 paper

NM_000256.3

p.C913Splc

c.2738-6C>A

8 papers

NM_000256.3

p.W916*

c.2747G>A

1 paper

NM_000256.3

p.C913Splc

c.2738-7C>A

8 papers

NM_000256.3

p.W916*

c.2748G>A