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.F1246fs

c.3736_3737fs

Surrounding Variants

5 papers

NM_000256.3

p.F1246S

c.3737T>C

2 papers

NM_000256.3

p.D1247_G1248ins4

c.3739_3743ins12

3 papers

NM_000256.3

p.D1247N

c.3739G>A

1 paper

NM_000256.3

p.F1246fs

c.3736_3737fs

7 papers

NM_000256.3

p.P1245delFs

c.3735delG

3 papers

NM_000256.3

p.P1245fs

c.3733_3734fs

1 paper

NM_000256.3

p.D1247delFs

c.3740delT

22 papers

NM_000256.3

p.G1248R

c.3742G>C

22 papers

NM_000256.3

p.G1248R

c.3742G>A

1 paper

NM_000256.3

p.P1245fs

c.3733_3734fs

10 papers

NM_000256.3

p.C1244*

c.3732C>A

1 paper

NM_000256.3

p.G1249fs

c.3745_3746fs