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.E258Splc

c.773-20T>C

Surrounding Variants

1 paper

NM_000256.3

p.E258Splc

c.773-6A>G

1 paper

NM_000256.3

p.E258Splc

c.773-2A>T

3 papers

NM_000256.3

p.E258Q

c.772G>C

174 papers

NM_000256.3

p.E258K

c.772G>A

1 paper

NM_000256.3

p.E258fs

c.772_773fs

1 paper

NM_000256.3

p.E258E

c.774G>A

2 papers

NM_000256.3

p.A259V

c.776C>T

4 papers

NM_000256.3

p.A259Fs

c.776delinsTTFs

1 paper

NM_000256.3

p.A259delFs

c.775delC

3 papers

NM_000256.3

p.A259fs

c.775_776fs

1 paper

NM_000256.3

p.M260T

c.779T>C

1 paper

NM_000256.3

p.T262S

c.784A>T