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.G988V

c.2963G>T

Surrounding Variants

1 paper

NM_000256.3

p.G988R

c.2962G>C

2 papers

NM_000256.3

p.G988R

c.2962G>A

2 papers

NM_000256.3

p.E989*

c.2965G>T

1 paper

NM_000256.3

p.E989fs

c.2965_2966fs

2 papers

NM_000256.3

p.E989delFs

c.2965delC

1 paper

NM_000256.3

p.V987I

c.2959G>A

2 papers

NM_000256.3

p.K986del1

c.2956_2957delCTT

1 paper

NM_000256.3

p.P990fs

c.2968_2969fs

3 papers

NM_000256.3

p.P990A

c.2968C>G

1 paper

NM_000256.3

p.P990delFs

c.2969delG

1 paper

NM_000256.3

p.K985N

c.2955G>T

2 papers

NM_000256.3

p.V991M

c.2971G>A