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.V771insFs

c.2311_2312insG

Surrounding Variants

1 paper

NM_000256.3

p.V771G

c.2312T>G

4 papers

NM_000256.3

p.V771A

c.2312T>C

1 paper

NM_000256.3

p.V771fs

c.2311_2312fs

20 papers

NM_000256.3

p.V771M

c.2311G>A

2 papers

NM_000256.3

p.V771fs

c.2311_2312fs

2 papers

NM_000256.3

p.D770_P772del0

c.2309_2314del6

1 paper

NM_000256.3

p.D770Y

c.2308G>T

2 papers

NM_000256.3

p.D770H

c.2308G>C

57 papers

NM_000256.3

p.D770N

c.2308G>A

1 paper

NM_000256.3

p.D773H

c.2317G>C

28 papers

NM_000256.3

p.D770Splc

c.2309-2A>G

2 papers

NM_000256.3

p.D770Splc

c.2309-3C>G