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

3 papers

NM_000256.3

p.R69Q

c.206G>A

Surrounding Variants

2 papers

NM_000256.3

p.R69L

c.206G>T

2 papers

NM_000256.3

p.R69W

c.205C>T

1 paper

NM_000256.3

p.E70*

c.208G>T

1 paper

NM_000256.3

p.V68V

c.204G>T

1 paper

NM_000256.3

p.E70K

c.208G>A

1 paper

NM_000256.3

p.T67_V68delFs

c.201_202delCT

2 papers

NM_000256.3

p.E70delFs

c.208delC

2 papers

NM_000256.3

p.E70fs

c.208_209fs

2 papers

NM_000256.3

p.V71delins

c.211_212delinsTA

1 paper

NM_000256.3

p.T65_L66delFs

c.194_197del4

1 paper

NM_000256.3

p.G72fs

c.214_215fs

2 papers

NM_000256.3

p.L66P

c.197T>C