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

3 papers

NM_000256.3

p.Y904_C913del0

c.2711_2737del27

Surrounding Variants

5 papers

NM_000256.3

p.C913Splc

c.2737+1G>C

2 papers

NM_000256.3

p.C913Splc

c.2737+1G>A

1 paper

NM_000256.3

p.C913insFs

c.2737_2738insG

4 papers

NM_000256.3

p.C913Splc

c.2737+2T>A

4 papers

NM_000256.3

p.G912delFs

c.2735delC

1 paper

NM_000256.3

p.G912V

c.2735G>T

1 paper

NM_000256.3

p.C913Splc

c.2737+5G>T

3 papers

NM_000256.3

p.C913Splc

c.2737+5G>A

4 papers

NM_000256.3

p.G912fs

c.2734_2735fs

1 paper

NM_000256.3

p.E911*

c.2731G>T

1 paper

NM_000256.3

p.E911fs

c.2731_2732fs

1 paper

NM_000256.3

p.P910insFs

c.2729_2730insC