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

1–12 of 3333 variants

179 papers

NM_000256.3

p.R502W

c.1504C>T

174 papers

NM_000256.3

p.E258K

c.772G>A

172 papers

NM_000256.3

p.Q791insFs

c.2373dupG

139 papers

NM_000256.3

p.R943*

c.2827C>T

137 papers

NM_000256.3

p.E258K

c.772G>A

109 papers

NM_000256.3

p.R495Q

c.1484G>A

103 papers

NM_000256.3

p.E542Q

c.1624G>C

93 papers

NM_000256.3

p.P955delFs

c.2864_2865delAG

84 papers

NM_000256.3

p.R502Q

c.1505G>A

82 papers

NM_000256.3

p.R820Q

c.2459G>A

76 papers

NM_000256.3

p.E334K

c.1000G>A

75 papers

NM_000256.3

p.A31P

c.91G>C