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

5 papers

NM_000256.3

p.Q984*

c.2950C>T

Surrounding Variants

6 papers

NM_000256.3

p.Q981_I983delFs

c.2943_2947del5

3 papers

NM_000256.3

p.K985*

c.2953A>T

3 papers

NM_000256.3

p.K985E

c.2953A>G

1 paper

NM_000256.3

p.K985N

c.2955G>T

5 papers

NM_000256.3

p.Q981fs

c.2941_2942fs

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.Q981fs

c.2941_2942fs

2 papers

NM_000256.3

p.Q981*

c.2941C>T

1 paper

NM_000256.3

p.Q981E

c.2941C>G

1 paper

NM_000256.3

p.R980L

c.2939G>T

3 papers

NM_000256.3

p.R980H

c.2939G>A