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.A522_G523del1

c.1565_1567delCCG

Surrounding Variants

4 papers

NM_000256.3

p.G523V

c.1568G>T

3 papers

NM_000256.3

p.G523W

c.1567G>T

4 papers

NM_000256.3

p.G523R

c.1567G>C

4 papers

NM_000256.3

p.G523R

c.1567G>A

1 paper

NM_000256.3

p.A522A

c.1566G>A

2 papers

NM_000256.3

p.G523insFs

c.1569dupG

1 paper

NM_000256.3

p.H524fs

c.1570_1571fs

4 papers

NM_000256.3

p.A522V

c.1565C>T

1 paper

NM_000256.3

p.A522G

c.1565C>G

22 papers

NM_000256.3

p.A522T

c.1564G>A

6 papers

NM_000256.3

p.Y525H

c.1573T>C

1 paper

NM_000256.3

p.Y525N

c.1573T>A