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.M844fs

c.2530_2531fs

Surrounding Variants

1 paper

NM_000256.3

p.M844insFs

c.2530_2531insGA

2 papers

NM_000256.3

p.M844insFs

c.2531_2532insGA

4 papers

NM_000256.3

p.M844fs

c.2530_2531fs

2 papers

NM_000256.3

p.E843*

c.2527G>T

3 papers

NM_000256.3

p.R845C

c.2533C>T

1 paper

NM_000256.3

p.R845G

c.2533C>G

5 papers

NM_000256.3

p.R845S

c.2533C>A

1 paper

NM_000256.3

p.R845fs

c.2533_2534fs

1 paper

NM_000256.3

p.R845L

c.2534G>T

1 paper

NM_000256.3

p.R845P

c.2534G>C

4 papers

NM_000256.3

p.R845H

c.2534G>A

22 papers

NM_000256.3

p.Y842*

c.2526C>G