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.L156V

c.466C>G

Surrounding Variants

1 paper

NM_000256.3

p.G155_L156ins1

c.465_466insGCG

3 papers

NM_000256.3

p.G155V

c.464G>T

1 paper

NM_000256.3

p.G155A

c.464G>C

1 paper

NM_000256.3

p.G155D

c.464G>A

1 paper

NM_000256.3

p.I154ins0

c.460_462dupATT

7 papers

NM_000256.3

p.I154fs

c.460_461fs

13 papers

NM_000256.3

p.I154T

c.461T>C

2 papers

NM_000256.3

p.F157F

c.471C>T

4 papers

NM_000256.3

p.I154fs

c.460_461fs

33 papers

NM_000256.3

p.V158M

c.472G>A

3 papers

NM_000256.3

p.P153insFs

c.459dupC

13 papers

NM_000256.3

p.P153delFs

c.459delG