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

7 papers

NM_000256.3

p.T262T

c.786C>T

Surrounding Variants

13 papers

NM_000256.3

p.G263*

c.787G>T

19 papers

NM_000256.3

p.G263R

c.787G>C

22 papers

NM_000256.3

p.G263R

c.787G>A

1 paper

NM_000256.3

p.T262S

c.785C>G

1 paper

NM_000256.3

p.G263A

c.788G>C

1 paper

NM_000256.3

p.T262S

c.784A>T

1 paper

NM_000256.3

p.D264fs

c.790_791fs

3 papers

NM_000256.3

p.D264insFs

c.791_792insG

1 paper

NM_000256.3

p.M260T

c.779T>C

1 paper

NM_000256.3

p.L265L

c.793C>T

3 papers

NM_000256.3

p.A259fs

c.775_776fs

2 papers

NM_000256.3

p.A259V

c.776C>T