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

2 papers

NM_000256.3

p.V592_S593delFs

c.1776_1777delAC

Surrounding Variants

5 papers

NM_000256.3

p.S593F

c.1778C>T

8 papers

NM_000256.3

p.S593delFs

c.1777delA

1 paper

NM_000256.3

p.S593P

c.1777T>C

9 papers

NM_000256.3

p.S593fs

c.1777_1778fs

3 papers

NM_000256.3

p.S593fs

c.1777_1778fs

9 papers

NM_000256.3

p.V592fs

c.1774_1775fs

2 papers

NM_000256.3

p.V592delFs

c.1775delA

1 paper

NM_000256.3

p.V592M

c.1774G>A

1 paper

NM_000256.3

p.H594Q

c.1782C>G

1 paper

NM_000256.3

p.H594Q

c.1782C>A

3 papers

NM_000256.3

p.K591N

c.1773G>T

3 papers

NM_000256.3

p.K591N

c.1773G>C