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

2 papers

NM_000256.3

p.G1234R

c.3700G>A

Surrounding Variants

1 paper

NM_000256.3

p.G1234_V1235insT

c.3700_3704ins3

2 papers

NM_000256.3

p.G1234R

c.3700G>C

1 paper

NM_000256.3

p.G1234fs

c.3700_3701fs

1 paper

NM_000256.3

p.Q1233H

c.3699G>T

1 paper

NM_000256.3

p.Q1233H

c.3699G>C

1 paper

NM_000256.3

p.Q1233Q

c.3699G>A

2 papers

NM_000256.3

p.G1234delFs

c.3701delC

75 papers

NM_000256.3

p.Q1233*

c.3697C>T

2 papers

NM_000256.3

p.G1234_V1235delFs

c.3702_3703delCT

6 papers

NM_000256.3

p.K1232*

c.3694A>T

2 papers

NM_000256.3

p.L1236fs

c.3706_3707fs

1 paper

NM_000256.3

p.S1231insFs

c.3692_3693ins4