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

2 papers

NM_000256.3

p.G235fs

c.703_704fs

Surrounding Variants

53 papers

NM_000256.3

p.S236G

c.706A>G

1 paper

NM_000256.3

p.S236R

c.706A>C

1 paper

NM_000256.3

p.T234insFs

c.701dupC

1 paper

NM_000256.3

p.I226insFs

c.676_677ins26

3 papers

NM_000256.3

p.Y237H

c.709T>C

3 papers

NM_000256.3

p.T234N

c.701C>A

3 papers

NM_000256.3

p.Y237C

c.710A>G

28 papers

NM_000256.3

p.Y237S

c.710A>C

4 papers

NM_000256.3

p.Y237*

c.711C>G

4 papers

NM_000256.3

p.Y237*

c.711C>A

4 papers

NM_000256.3

p.R238C

c.712C>T

2 papers

NM_000256.3

p.A232delFs

c.696delG