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.M854_P857delFs

c.2560_2570del11

Surrounding Variants

5 papers

NM_000256.3

p.S858R

c.2572A>C

1 paper

NM_000256.3

p.S858T

c.2573G>C

21 papers

NM_000256.3

p.S858N

c.2573G>A

1 paper

NM_000256.3

p.P857T

c.2569C>A

1 paper

NM_000256.3

p.R856delFs

c.2568delC

1 paper

NM_000256.3

p.R856fs

c.2566_2567fs

5 papers

NM_000256.3

p.S858R

c.2574C>G

5 papers

NM_000256.3

p.S858R

c.2574C>A

1 paper

NM_000256.3

p.P859S

c.2575C>T

1 paper

NM_000256.3

p.S855P

c.2563T>C

1 paper

NM_000256.3

p.A860V

c.2579C>T

1 paper

NM_000256.3

p.A860D

c.2579C>A