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

5 papers

NM_000256.3

p.R835C

c.2503C>T

Surrounding Variants

1 paper

NM_000256.3

p.R835S

c.2503C>A

3 papers

NM_000256.3

p.R834delFs

c.2502delC

2 papers

NM_000256.3

p.R835fs

c.2503_2504fs

22 papers

NM_000256.3

p.R835L

c.2504G>T

3 papers

NM_000256.3

p.R835delins

c.2504_2505delinsTT

2 papers

NM_000256.3

p.R835delFs

c.2504delC

1 paper

NM_000256.3

p.R834fs

c.2500_2501fs

4 papers

NM_000256.3

p.R834W

c.2500C>T

20 papers

NM_000256.3

p.A833V

c.2498C>T

37 papers

NM_000256.3

p.A833T

c.2497G>A

2 papers

NM_000256.3

p.I837fs

c.2509_2510fs

1 paper

NM_000256.3

p.I837insFs

c.2509_2510insG