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.P1025insFs

c.3073dupC

Surrounding Variants

1 paper

NM_000256.3

p.D1027Fs

c.3079delinsAAFs

1 paper

NM_000256.3

p.D1027fs

c.3079_3080fs

4 papers

NM_000256.3

p.S1024R

c.3072C>G

4 papers

NM_000256.3

p.S1024R

c.3072C>A

2 papers

NM_000256.3

p.V1019_T1026del8

c.3055_3077del24

8 papers

NM_000256.3

p.T1028S

c.3082A>T

4 papers

NM_000256.3

p.S1024R

c.3070A>C

3 papers

NM_000256.3

p.T1028I

c.3083C>T

8 papers

NM_000256.3

p.T1028S

c.3083C>G

1 paper

NM_000256.3

p.N1023K

c.3069C>G

2 papers

NM_000256.3

p.N1023fs

c.3067_3068fs

4 papers

NM_000256.3

p.N1023insFs

c.3068_3069insA