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

4 papers

NM_000256.3

p.F90L

c.270C>G

Surrounding Variants

1 paper

NM_000256.3

p.F90F

c.270C>T

4 papers

NM_000256.3

p.F90L

c.270C>A

2 papers

NM_000256.3

p.D91N

c.271G>A

1 paper

NM_000256.3

p.K89_F90del2

c.265_269del6

1 paper

NM_000256.3

p.K89_F90insFs

c.267_268insG

4 papers

NM_000256.3

p.F90L

c.268T>C

1 paper

NM_000256.3

p.F90I

c.268T>A

2 papers

NM_000256.3

p.L92F

c.274C>T

1 paper

NM_000256.3

p.K89R

c.266A>G

1 paper

NM_000256.3

p.K89*

c.265A>T

1 paper

NM_000256.3

p.V88V

c.264C>T

1 paper

NM_000256.3

p.K93E

c.277A>G