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

4 papers

NM_000256.3

p.G1011delFs

c.3033delC

Surrounding Variants

4 papers

NM_000256.3

p.Q1012fs

c.3034_3035fs

10 papers

NM_000256.3

p.Q1012*

c.3034C>T

1 paper

NM_000256.3

p.Q1012delFs

c.3035delT

1 paper

NM_000256.3

p.G1011R

c.3031G>C

1 paper

NM_000256.3

p.G1011R

c.3031G>A

1 paper

NM_000256.3

p.E1010delFs

c.3029_3030delCT

4 papers

NM_000256.3

p.E1010fs

c.3028_3029fs

3 papers

NM_000256.3

p.E1010delFs

c.3029delT

4 papers

NM_000256.3

p.L1014fs

c.3040_3041fs

1 paper

NM_000256.3

p.E1010fs

c.3028_3029fs

1 paper

NM_000256.3

p.P1013_L1014insFs

c.3039_3040dupCC

6 papers

NM_000256.3

p.L1014delFs

c.3040delG