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.Q1103*

c.3307C>T

Surrounding Variants

1 paper

NM_000256.3

p.Q1103H

c.3309G>T

1 paper

NM_000256.3

p.Q1103H

c.3309G>C

1 paper

NM_000256.3

p.T1101delFs

c.3302delG

7 papers

NM_000256.3

p.A1105fs

c.3313_3314fs

5 papers

NM_000256.3

p.Y1100*

c.3300C>G

1 paper

NM_000256.3

p.A1105G

c.3314C>G

6 papers

NM_000256.3

p.A1105insFs

c.3313_3314insGG

3 papers

NM_000256.3

p.Y1100fs

c.3298_3299fs

5 papers

NM_000256.3

p.Y1100*

c.3300C>A

2 papers

NM_000256.3

p.A1105D

c.3314C>A

2 papers

NM_000256.3

p.V1102_K1104del3

c.3304_3311del9

1 paper

NM_000256.3

p.Y1100F

c.3299A>T