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.T422I

c.1265C>T

Surrounding Variants

2 papers

NM_000256.3

p.T422_I423insFs

c.1266_1267ins4

1 paper

NM_000256.3

p.I423V

c.1267A>G

1 paper

NM_000256.3

p.S424insFs

c.1270dupA

15 papers

NM_000256.3

p.Q425*

c.1273C>T

1 paper

NM_000256.3

p.R419_S424delFs

c.1255_1271del17

2 papers

NM_000256.3

p.R419H

c.1256G>A

5 papers

NM_000256.3

p.R419C

c.1255C>T

2 papers

NM_000256.3

p.C426S

c.1276T>A

2 papers

NM_000256.3

p.C426S

c.1277G>C

1 paper

NM_000256.3

p.K418Q

c.1252A>C

1 paper

NM_000256.3

p.A417delFs

c.1251delG

1 paper

NM_000256.3

p.G416_K418Fs

c.1246_1252delinsAGCCAGTGCTCFs