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.K418Q

c.1252A>C

Surrounding Variants

1 paper

NM_000256.3

p.A417delFs

c.1251delG

1 paper

NM_000256.3

p.G416_K418Fs

c.1246_1252delinsAGCCAGTGCTCFs

1 paper

NM_000256.3

p.A417A

c.1251C>T

1 paper

NM_000256.3

p.A417S

c.1249G>T

5 papers

NM_000256.3

p.R419C

c.1255C>T

1 paper

NM_000256.3

p.G416_A417insFs

c.1248_1249ins4

2 papers

NM_000256.3

p.R419H

c.1256G>A

2 papers

NM_000256.3

p.G416V

c.1247G>T

2 papers

NM_000256.3

p.G416insFs

c.1247_1248ins4

1 paper

NM_000256.3

p.G416D

c.1247G>A

14 papers

NM_000256.3

p.G416S

c.1246G>A

1 paper

NM_000256.3

p.I415L

c.1243A>C