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

3 papers

NM_000256.3

p.P672fs

c.2014_2015fs

Surrounding Variants

1 paper

NM_000256.3

p.P672fs

c.2014_2015fs

2 papers

NM_000256.3

p.V671delFs

c.2013delG

5 papers

NM_000256.3

p.V671_P672Fs

c.2013_2016delinsGGFs

1 paper

NM_000256.3

p.V671F

c.2011G>T

5 papers

NM_000256.3

p.V671I

c.2011G>A

1 paper

NM_000256.3

p.I673N

c.2018T>A

1 paper

NM_000256.3

p.K666_I673delFs

c.1996_2018del23

1 paper

NM_000256.3

p.G675R

c.2023G>C

1 paper

NM_000256.3

p.G675R

c.2023G>A

2 papers

NM_000256.3

p.L669M

c.2005C>A

2 papers

NM_000256.3

p.R668P

c.2003G>C

18 papers

NM_000256.3

p.R668H

c.2003G>A