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.N53_K54Fs

c.158_160delinsTGGTCACFs

Surrounding Variants

6 papers

NM_000256.3

p.K54fs

c.160_161fs

1 paper

NM_000256.3

p.N53_K54delins

c.158_160delinsTGGTCACAG

1 paper

NM_000256.3

p.N53delFs

c.157_158delTT

1 paper

NM_000256.3

p.K54T

c.161A>C

6 papers

NM_000256.3

p.K54delFs

c.162delC

1 paper

NM_000256.3

p.N53fs

c.157_158fs

1 paper

NM_000256.3

p.S52R

c.156C>G

1 paper

NM_000256.3

p.S52R

c.156C>A

1 paper

NM_000256.3

p.Y55C

c.164A>G

2 papers

NM_000256.3

p.G56R

c.166G>C

3 papers

NM_000256.3

p.G56S

c.166G>A

1 paper

NM_000256.3

p.S52C

c.154A>T