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.I837delFs

c.2511delG

Surrounding Variants

5 papers

NM_000256.3

p.E838*

c.2512G>T

2 papers

NM_000256.3

p.E838Q

c.2512G>C

2 papers

NM_000256.3

p.E838K

c.2512G>A

1 paper

NM_000256.3

p.E838fs

c.2512_2513fs

2 papers

NM_000256.3

p.E838G

c.2513A>G

4 papers

NM_000256.3

p.E838insFs

c.2512_2513insG

1 paper

NM_000256.3

p.I837delFs

c.2509delT

1 paper

NM_000256.3

p.E838fs

c.2512_2513fs

1 paper

NM_000256.3

p.I837_E838delFs

c.2510_2513del4

1 paper

NM_000256.3

p.G839S

c.2515G>A

1 paper

NM_000256.3

p.I837_E838del2

c.2509_2513del6

2 papers

NM_000256.3

p.I837fs

c.2509_2510fs