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.L901P

c.2702T>C

Surrounding Variants

4 papers

NM_000256.3

p.G897_G900delFs

c.2689_2698del10

4 papers

NM_000256.3

p.G897_G899delFs

c.2690_2696del7

4 papers

NM_000256.3

p.G903D

c.2708G>A

2 papers

NM_000256.3

p.Y904fs

c.2710_2711fs

3 papers

NM_000256.3

p.Y904delFs

c.2710delA

1 paper

NM_000256.3

p.A898S

c.2692G>T

1 paper

NM_000256.3

p.Y904*

c.2712C>G

1 paper

NM_000256.3

p.Y904fs

c.2710_2711fs

1 paper

NM_000256.3

p.Y904*

c.2712C>A

3 papers

NM_000256.3

p.S905R

c.2713A>C

2 papers

NM_000256.3

p.G897fs

c.2689_2690fs

2 papers

NM_000256.3

p.S905N

c.2714G>A