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

3 papers

NM_000256.3

p.A328fs

c.982_983fs

Surrounding Variants

3 papers

NM_000256.3

p.Q327fs

c.979_980fs

3 papers

NM_000256.3

p.A328delFs

c.982delC

3 papers

NM_000256.3

p.A328fs

c.982_983fs

1 paper

NM_000256.3

p.P329fs

c.985_986fs

64 papers

NM_000256.3

p.R326Q

c.977G>A

2 papers

NM_000256.3

p.P329fs

c.985_986fs

1 paper

NM_000256.3

p.R326W

c.976C>T

1 paper

NM_000256.3

p.R326G

c.976C>G

1 paper

NM_000256.3

p.P330T

c.988C>A

4 papers

NM_000256.3

p.P330fs

c.988_989fs

1 paper

NM_000256.3

p.P330L

c.989C>T

1 paper

NM_000256.3

p.P330P

c.990A>T