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.A23_P26del4

c.67_77del12

Surrounding Variants

5 papers

NM_000256.3

p.V28M

c.82G>A

1 paper

NM_000256.3

p.V28E

c.83T>A

1 paper

NM_000256.3

p.P26delFs

c.77delG

1 paper

NM_000256.3

p.P26L

c.77C>T

4 papers

NM_000256.3

p.F29fs

c.85_86fs

1 paper

NM_000256.3

p.P26fs

c.76_77fs

1 paper

NM_000256.3

p.S25fs

c.73_74fs

1 paper

NM_000256.3

p.S25_P26insFs

c.75_76insGA

1 paper

NM_000256.3

p.F29L

c.87C>A

5 papers

NM_000256.3

p.F29delFs

c.86delA

5 papers

NM_000256.3

p.S25N

c.74G>A

3 papers

NM_000256.3

p.E30K

c.88G>A