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.T1109delFs

c.3327delG

Surrounding Variants

5 papers

NM_000256.3

p.M1110fs

c.3328_3329fs

4 papers

NM_000256.3

p.M1110delFs

c.3328delT

6 papers

NM_000256.3

p.T1109I

c.3326C>T

2 papers

NM_000256.3

p.K1108del1

c.3322_3323delCTT

1 paper

NM_000256.3

p.M1110_E1111ins1

c.3330_3331insGTG

2 papers

NM_000256.3

p.M1110_E1111Splc

c.3330+1G>C

1 paper

NM_000256.3

p.M1110_E1111Splc

c.3330+1G>A

50 papers

NM_000256.3

p.M1110_E1111Splc

c.3330+2T>G

8 papers

NM_000256.3

p.M1110_E1111Splc

c.3330+2T>C

7 papers

NM_000256.3

p.K1108T

c.3323A>C

2 papers

NM_000256.3

p.K1108fs

c.3322_3323fs

3 papers

NM_000256.3

p.K1107insFs

c.3321dupG