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

93 papers

NM_000256.3

p.P955delFs

c.2864_2865delAG

Surrounding Variants

1 paper

NM_000256.3

p.A954_P955delFs

c.2862_2865del4

32 papers

NM_000256.3

p.P955fs

c.2863_2864fs

2 papers

NM_000256.3

p.P955delFs

c.2864delG

1 paper

NM_000256.3

p.A954delFs

c.2861_2862delGG

1 paper

NM_000256.3

p.P955R

c.2864C>G

31 papers

NM_000256.3

p.P955fs

c.2863_2864fs

1 paper

NM_000256.3

p.A954del1

c.2860_2861delGGC

1 paper

NM_000256.3

p.T957fs

c.2869_2870fs

22 papers

NM_000256.3

p.T957S

c.2869A>T

1 paper

NM_000256.3

p.A954A

c.2862C>T

23 papers

NM_000256.3

p.T957S

c.2870C>G

1 paper

NM_000256.3

p.A954fs

c.2860_2861fs