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.I852fs

c.2554_2555fs

Surrounding Variants

2 papers

NM_000256.3

p.I852insFs

c.2554_2555insT

1 paper

NM_000256.3

p.A851fs

c.2551_2552fs

7 papers

NM_000256.3

p.A851V

c.2552C>T

3 papers

NM_000256.3

p.I852insFs

c.2555dupT

3 papers

NM_000256.3

p.I852fs

c.2554_2555fs

1 paper

NM_000256.3

p.I852insFs

c.2556dupC

1 paper

NM_000256.3

p.G853R

c.2557G>C

2 papers

NM_000256.3

p.G853S

c.2557G>A

6 papers

NM_000256.3

p.I852_G853Fs

c.2556_2557delinsTCTFs

2 papers

NM_000256.3

p.N850delFs

c.2550delG

1 paper

NM_000256.3

p.I852delFs

c.2556delG

1 paper

NM_000256.3

p.I852_G853Fs

c.2556_2557delinsTCTAFs