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.D248fs

c.742_743fs

Surrounding Variants

1 paper

NM_000256.3

p.D248Y

c.742G>T

3 papers

NM_000256.3

p.D248N

c.742G>A

1 paper

NM_000256.3

p.F247L

c.741T>G

3 papers

NM_000256.3

p.C249R

c.745T>C

1 paper

NM_000256.3

p.F247L

c.739T>C

2 papers

NM_000256.3

p.C249S

c.745T>A

2 papers

NM_000256.3

p.C249S

c.746G>C

2 papers

NM_000256.3

p.C249Y

c.746G>A

1 paper

NM_000256.3

p.K246K

c.738A>G

5 papers

NM_000256.3

p.C249*

c.747C>A

6 papers

NM_000256.3

p.D248_C249delFs

c.743_746del4

1 paper

NM_000256.3

p.K246_F247insA

c.736_740ins3