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.T959M

c.2876C>T

Surrounding Variants

2 papers

NM_000256.3

p.T959delFs

c.2875_2876delGT

1 paper

NM_000256.3

p.T959fs

c.2875_2876fs

11 papers

NM_000256.3

p.T958I

c.2873C>T

2 papers

NM_000256.3

p.T957fs

c.2869_2870fs

13 papers

NM_000256.3

p.P961L

c.2882C>T

23 papers

NM_000256.3

p.T957S

c.2870C>G

3 papers

NM_000256.3

p.T957insFs

c.2869dupA

1 paper

NM_000256.3

p.P961P

c.2883G>A

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.V962V

c.2886G>A

93 papers

NM_000256.3

p.P955delFs

c.2864_2865delAG