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.A950insFs

c.2850dupA

Surrounding Variants

4 papers

NM_000256.3

p.A950V

c.2849C>T

1 paper

NM_000256.3

p.A950P

c.2848G>C

1 paper

NM_000256.3

p.P952A

c.2854C>G

6 papers

NM_000256.3

p.M949insFs

c.2846dupT

1 paper

NM_000256.3

p.G953R

c.2857G>C

1 paper

NM_000256.3

p.G953R

c.2857G>A

4 papers

NM_000256.3

p.M949fs

c.2845_2846fs

3 papers

NM_000256.3

p.N948delFs

c.2842_2843delTT

7 papers

NM_000256.3

p.N948T

c.2843A>C

1 paper

NM_000256.3

p.P952_G953delFs

c.2854_2858del5

2 papers

NM_000256.3

p.N948fs

c.2842_2843fs

4 papers

NM_000256.3

p.A954T

c.2860G>A