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.T274A

c.820A>G

Surrounding Variants

2 papers

NM_000256.3

p.T274M

c.821C>T

1 paper

NM_000256.3

p.T274Splc

c.821+1G>T

1 paper

NM_000256.3

p.R273insFs

c.817dupC

7 papers

NM_000256.3

p.T274Splc

c.821+1G>C

42 papers

NM_000256.3

p.T274Splc

c.821+1G>A

16 papers

NM_000256.3

p.R273H

c.818G>A

2 papers

NM_000256.3

p.F271_R273delFs

c.811_817del7

2 papers

NM_000256.3

p.T274Splc

c.821+2T>G

10 papers

NM_000256.3

p.T274Splc

c.821+2T>C

1 paper

NM_000256.3

p.T274Splc

c.821+2T>A

6 papers

NM_000256.3

p.R273C

c.817C>T

3 papers

NM_000256.3

p.R272delFs

c.814_815delCG