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.N1051S

c.3152A>G

Surrounding Variants

1 paper

NM_000256.3

p.N1051fs

c.3151_3152fs

1 paper

NM_000256.3

p.E1050delFs

c.3150delC

3 papers

NM_000256.3

p.M1052V

c.3154A>G

1 paper

NM_000256.3

p.E1050*

c.3148G>T

4 papers

NM_000256.3

p.E1050K

c.3148G>A

1 paper

NM_000256.3

p.I1049V

c.3145A>G

2 papers

NM_000256.3

p.D1054N

c.3160G>A

4 papers

NM_000256.3

p.R1048C

c.3142C>T

1 paper

NM_000256.3

p.V1047delFs

c.3141delC

1 paper

NM_000256.3

p.R1048fs

c.3142_3143fs

12 papers

NM_000256.3

p.K1055*

c.3163A>T

1 paper

NM_000256.3

p.T1046fs

c.3136_3137fs