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.W1098fs

c.3292_3293fs

Surrounding Variants

18 papers

NM_000256.3

p.W1098*

c.3293G>A

1 paper

NM_000256.3

p.W1098fs

c.3292_3293fs

18 papers

NM_000256.3

p.W1098*

c.3294G>A

1 paper

NM_000256.3

p.W1098delFs

c.3292_3293delCA

2 papers

NM_000256.3

p.G1099R

c.3295G>C

1 paper

NM_000256.3

p.G1099R

c.3295G>A

11 papers

NM_000256.3

p.E1096delFs

c.3288delC

1 paper

NM_000256.3

p.E1096D

c.3288G>T

4 papers

NM_000256.3

p.E1096fs

c.3286_3287fs

2 papers

NM_000256.3

p.G1099A

c.3296G>C

1 paper

NM_000256.3

p.E1096D

c.3288G>C

13 papers

NM_000256.3

p.E1096E

c.3288G>A