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.A678D

c.2033C>A

Surrounding Variants

1 paper

NM_000256.3

p.P679S

c.2035C>T

10 papers

NM_000256.3

p.P677L

c.2030C>T

2 papers

NM_000256.3

p.P677S

c.2029C>T

1 paper

NM_000256.3

p.T680delFs

c.2038delT

3 papers

NM_000256.3

p.G675_D676delFs

c.2025_2026delCC

2 papers

NM_000256.3

p.D676fs

c.2026_2027fs

3 papers

NM_000256.3

p.T680_V681insFs

c.2040_2041insT

1 paper

NM_000256.3

p.G675G

c.2025G>A

1 paper

NM_000256.3

p.V681fs

c.2041_2042fs

1 paper

NM_000256.3

p.G675R

c.2023G>C

1 paper

NM_000256.3

p.G675R

c.2023G>A

1 paper

NM_000256.3

p.I682F

c.2044A>T