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.Y1251fs

c.3751_3752fs

Surrounding Variants

10 papers

NM_000256.3

p.Y1251H

c.3751T>C

2 papers

NM_000256.3

p.I1250M

c.3750C>G

4 papers

NM_000256.3

p.Y1251C

c.3752A>G

9 papers

NM_000256.3

p.Y1251*

c.3753T>G

9 papers

NM_000256.3

p.Y1251*

c.3753T>A

1 paper

NM_000256.3

p.Y1251delFs

c.3752_3753delAT

1 paper

NM_000256.3

p.G1249delFs

c.3746delC

6 papers

NM_000256.3

p.G1249V

c.3746G>T

1 paper

NM_000256.3

p.G1249D

c.3746G>A

1 paper

NM_000256.3

p.G1249fs

c.3745_3746fs

1 paper

NM_000256.3

p.C1253Y

c.3758G>A

22 papers

NM_000256.3

p.G1248R

c.3742G>C