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

16 papers

NM_000256.3

p.P161S

c.481C>T

Surrounding Variants

5 papers

NM_000256.3

p.P161T

c.481C>A

2 papers

NM_000256.3

p.R160delFs

c.480delC

1 paper

NM_000256.3

p.P161fs

c.481_482fs

1 paper

NM_000256.3

p.P161R

c.482C>G

1 paper

NM_000256.3

p.P161Q

c.482C>A

3 papers

NM_000256.3

p.R160Q

c.479G>A

1 paper

NM_000256.3

p.P161insFs

c.482dupC

1 paper

NM_000256.3

p.R160fs

c.478_479fs

23 papers

NM_000256.3

p.R160W

c.478C>T

13 papers

NM_000256.3

p.Q162*

c.484C>T

1 paper

NM_000256.3

p.R160G

c.478C>G

1 paper

NM_000256.3

p.M159I

c.477G>T