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.F252L

c.756C>G

Surrounding Variants

4 papers

NM_000256.3

p.F252L

c.756C>A

3 papers

NM_000256.3

p.F252L

c.754T>C

1 paper

NM_000256.3

p.N253S

c.758A>G

1 paper

NM_000256.3

p.L254F

c.760C>T

1 paper

NM_000256.3

p.D248_N253del6

c.742_758del18

1 paper

NM_000256.3

p.L254P

c.761T>C

1 paper

NM_000256.3

p.S250C

c.749C>G

1 paper

NM_000256.3

p.T255A

c.763A>G

5 papers

NM_000256.3

p.C249*

c.747C>A

6 papers

NM_000256.3

p.D248_C249delFs

c.743_746del4

2 papers

NM_000256.3

p.C249S

c.746G>C

2 papers

NM_000256.3

p.C249Y

c.746G>A