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.Y525H

c.1573T>C

Surrounding Variants

1 paper

NM_000256.3

p.Y525N

c.1573T>A

1 paper

NM_000256.3

p.Y525C

c.1574A>G

5 papers

NM_000256.3

p.Y525S

c.1574A>C

11 papers

NM_000256.3

p.Y525*

c.1575T>G

11 papers

NM_000256.3

p.Y525*

c.1575T>A

1 paper

NM_000256.3

p.A526P

c.1576G>C

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.G523V

c.1568G>T

1 paper

NM_000256.3

p.A522_G523del1

c.1565_1567delCCG

3 papers

NM_000256.3

p.G523W

c.1567G>T

4 papers

NM_000256.3

p.G523R

c.1567G>C