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.C443S

c.1327T>A

Surrounding Variants

1 paper

NM_000256.3

p.C443_S444insG

c.1327_1331ins3

2 papers

NM_000256.3

p.C443S

c.1328G>C

1 paper

NM_000256.3

p.K442M

c.1325A>T

1 paper

NM_000256.3

p.E441*

c.1321G>T

42 papers

NM_000256.3

p.E441K

c.1321G>A

1 paper

NM_000256.3

p.T445A

c.1333A>G

3 papers

NM_000256.3

p.T445M

c.1334C>T

1 paper

NM_000256.3

p.G440G

c.1320C>T

1 paper

NM_000256.3

p.G440D

c.1319G>A

1 paper

NM_000256.3

p.E446K

c.1336G>A

2 papers

NM_000256.3

p.G439D

c.1316G>A

1 paper

NM_000256.3

p.E446E

c.1338G>A