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

2 papers

NM_000256.3

p.K409Splc

c.1227-9C>A

Surrounding Variants

34 papers

NM_000256.3

p.K409Splc

c.1227-13G>A

2 papers

NM_000256.3

p.K409Splc

c.1227-14C>A

1 paper

NM_000256.3

p.K409*

c.1225A>T

10 papers

NM_000256.3

p.K409Splc

c.1227-2A>G

2 papers

NM_000256.3

p.K409Splc

c.1227-1G>C

1 paper

NM_000256.3

p.K409Splc

c.1227-1G>A

1 paper

NM_000256.3

p.Y410N

c.1228T>A

1 paper

NM_000256.3

p.K409Splc

c.1227-19C>A

2 papers

NM_000256.3

p.I411V

c.1231A>G

1 paper

NM_000256.3

p.I411insFs

c.1231_1232insT

1 paper

NM_000256.3

p.I411fs

c.1231_1232fs

1 paper

NM_000256.3

p.I411I

c.1233C>A