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.A51A

c.153C>G

Surrounding Variants

1 paper

NM_000256.3

p.A51V

c.152C>T

1 paper

NM_000256.3

p.S50_A51delFs

c.148_151del4

1 paper

NM_000256.3

p.S52C

c.154A>T

1 paper

NM_000256.3

p.S52R

c.154A>C

1 paper

NM_000256.3

p.S52R

c.156C>G

1 paper

NM_000256.3

p.S52R

c.156C>A

1 paper

NM_000256.3

p.S50R

c.150C>A

1 paper

NM_000256.3

p.S47_I49del3

c.139_146del9

6 papers

NM_000256.3

p.I49_S50del1

c.146_148delTGA

1 paper

NM_000256.3

p.N53fs

c.157_158fs

4 papers

NM_000256.3

p.S50G

c.148A>G

1 paper

NM_000256.3

p.I49insFs

c.147dupC