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.R35P

c.104G>C

Surrounding Variants

14 papers

NM_000256.3

p.R35Q

c.104G>A

7 papers

NM_000256.3

p.R35W

c.103C>T

1 paper

NM_000256.3

p.A36T

c.106G>A

2 papers

NM_000256.3

p.T33delFs

c.98_99delTG

3 papers

NM_000256.3

p.G37*

c.109G>T

1 paper

NM_000256.3

p.T33fs

c.97_98fs

1 paper

NM_000256.3

p.G37E

c.110G>A

1 paper

NM_000256.3

p.T33I

c.98C>T

1 paper

NM_000256.3

p.T33A

c.97A>G

2 papers

NM_000256.3

p.E34_G37insFs

c.100_110dup11

1 paper

NM_000256.3

p.T33fs

c.97_98fs

1 paper

NM_000256.3

p.V38fs

c.112_113fs