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

3 papers

NM_000256.3

p.D1091G

c.3272A>G

Surrounding Variants

2 papers

NM_000256.3

p.D1091delFs

c.3271delC

2 papers

NM_000256.3

p.D1091fs

c.3271_3272fs

2 papers

NM_000256.3

p.V1092I

c.3274G>A

1 paper

NM_000256.3

p.Q1090E

c.3268C>G

12 papers

NM_000256.3

p.G1093C

c.3277G>T

3 papers

NM_000256.3

p.G1093S

c.3277G>A

1 paper

NM_000256.3

p.G1093A

c.3278G>C

1 paper

NM_000256.3

p.G1093D

c.3278G>A

2 papers

NM_000256.3

p.N1094I

c.3281A>T

1 paper

NM_000256.3

p.P1088S

c.3262C>T

1 paper

NM_000256.3

p.P1088A

c.3262C>G

1 paper

NM_000256.3

p.P1088T

c.3262C>A